In reply to Bryan

I was about 25/26 when I was diagnosed with MIYOSHI. (I'm now 35)  I was
also quite sporty - used to play squash & badminton.  I know how it feels to
suddenly have your life changed but you have to make the best of things and
carry on.  I'm a very determined person and I will not let this disease ruin
my life!!  I'm married with 2 young children and I still work part time.
Please ask anything you want to know about my diagnosis etc.
Keep smiling
Suzanne (PS I'm from England , where are you?)
----- Original Message -----
From: b5sense <b5sense@...>
To: <dysferlin@yahoogroups.com>
Sent: Tuesday, May 11, 2004 4:50 PM
Subject: [dysferlin] an introduction


> hi everybody,
> my name is bryan. i'm 24 and was diagnosed with miyoshi myopathy
> earlier this year. still trying to figure out what it all means. i
> feel pretty alone. i've been an athlete most of my life, and now it's
> hard for me to keep up, or even walk up a flight of stairs. i hope i
> can meet some people that might have similar experiences. it would be
> nice to talk to somebody,
> thanks
> bryan
>
>
>
>
>
>
> Yahoo! Groups Links
>
>
>
>
>

Hi Bryan,
I'm also 24.  I was diagnosed with Limb-girdle MD when I was 7.  What
I can tell you is that having MD is a constant adjustment, I guess
for me anyway. My MD is a slow progression type, but its hard to lose
your ability to do things (eg going up steps)I can imagine that this
new diagnosis has thrown you a bit.  Especially when you have been so
active in past.  To be honest I am not familiar with what you have
but I do know if you stay as active as possible it will be to your
benefit just don't over do it.  -changing subject- I haven't been
able to go up a flight of stairs in years, I use a power chair at
this stage in my life.  Well I gotta run but I look forward to
talking with you.  Take care.
Nesa

hi everybody,
my name is bryan. i'm 24 and was diagnosed with miyoshi myopathy
earlier this year. still trying to figure out what it all means. i
feel pretty alone. i've been an athlete most of my life, and now it's
hard for me to keep up, or even walk up a flight of stairs. i hope i
can meet some people that might have similar experiences. it would be
nice to talk to somebody,
thanks
bryan

Hi all,
I wanted to introduce myself.  I have Limb-girdle, not really sure
what type it is. I was diagnosed at age 7, had a biopsy at age 12.
Needless to say the biopsy was somehow botched.  Right now I go
yearly to my nearby MDA clinic after not going every year for a large
portion of my life.  I graduated from college received my BA and now
am just volunteering in the community, although I am still looking
for employment in my area.  Realisticly jobs aren't to prevalent in
my area, but I'm still plugging away.  I might go back to school to
complete my masters degree.  Well I look forward in meeting all of
you.  Take care. :)

I feel quite alone, for a while i have known there is something wrong
with me i feel weak alot of the time,ihave not been diagnosed but
think that i may have a dysferlin deficiency i have no  idea what
medical history my familyhave but am 20  years old, and feel like i
am 40/50! what should i do to find out  if i am one of these people,
my upper body is thin/gaunt my leg muscles are big in the thighs but
not strong,
tips/advice extreamly welcome!
Katie
Kjviccary@...

Hi ,
  I'm looking for others in my general  age group (I'm 49 ) that have LGMD 2B,
live alone, and would like someone to correspond with. My email is
<cadiame@...>
Thanks ~e~

Hi friends

Do you have any update on this question about how to detect the
dysferlin in the blood? I have a nephew that had a problem of MD and
we are trying to identify which one is. Also, do you know if exist in
the market any product or vitamin suplement that contain the
dysferlin and if it is something that he can take and it could work
in that way? Or is this a lot more complicated than this?

Also, Im trying to find what are the best place to check him in USA,
he is living in Peru right now and is only 3 years old, but he have
it since 2 years, which is odd really.

Thank you,

Raul

--- In dysferlin@yahoogroups.com, "baw1064" <BWilliams16@c...> wrote:
> Hi Lucinda,
>
> The diagnostic test currently done involves testing for the
presence
> of the dysferlin protein, using an antibody which recognizes
> dysferlin.  Currently this is done using a muscle biopsy, although
a
> test is currently being developed do detect dysferlin in a certain
> type of white blood cells, which would be convenient for a lot of
> people because it wouldn't necessitate the trouble of a muscle
> biopsy...
>   As I understand it, performing the test is not all that
> technically difficult; the antibodies which have been developed for
> dysferlin detection are quite sensitive and are commercially
> available.  There is a difficulty in that patients who have a
> mutation in one gene sometimes show abnormalities in other muscle
> proteins as a secondary effect.  For dysferlin, patients who have
> genetically confirmed muscular dystrophy of other types have been
> shown to sometimes exhibit abnormal expression or localization (not
> in the proper place within the cell) of dysferlin.  So the protein
> test is very useful, but probably shouldn't be the sole criterion
> for a diagnosis--a patient's age, history, symptoms, and other
tests
> such as CK, EMG, etc. should be taken into account.
>   I don't know specifically of laboratories in New Zealand who
> perform the test (perhaps the MDA of NZ would be able to provide
> this information?) I do know that the Children's Hospital in
> Westmead, Sydney does this sort of testing and is currently
> conducting research on dysferlin deficiency.
>
> Hope this helps..best of luck to you!
> Brad

Hi
I'm Suzanne, from England, & I've been diagnosed with Miyoshi Distal
Myopathy.  I have a very suppotive husband, a son of four years old and a
one year old daughter.  Life is hectic but I manage very well.  I can get
them to school, put them to bed, look after the house and I work part-time
too.  The main thing I cannot do is pick them up whilst standing and carry
them.  There are always ways around this - like crawling with them and
transferring the baby in a pushchair.  My four year old is a happy, loving,
considerate little boy and I don't feel he's missed out on anything in life.
He's certainly made my life richer!!

----- Original Message -----
From: inquisitivemind3 <inquisitivemind3@...>
To: <dysferlin@yahoogroups.com>
Sent: Sunday, September 28, 2003 6:33 PM
Subject: [dysferlin] Thank you for your messages


> Hello,
>
> I just wanted to thank everybody who responded to my email posted in
> August.  I may have been very slow to reply, but I greatly
> appreciated everybody's messages.
>
> Mathew, my fellow-Ontarian...How are you?  Are you still lifting
> weights?  I think it's great that you can still do that.  I'm
> curious:  Do you see a doctor on a regular basis?  Since I've been
> diagnosed, it seems I've been forgotten.  I haven't had any guidance
> at all and I'm wondering if anybody else gets regular support,
> advice, updates...anything?
> Aman, it's great that you're attending medical school.
> Congratulations!  I really hope you're able to conduct some
> research, or at least, keep us informed on what's happening.  Good
> luck in your studies.  How are you coping with life on campus?
> Fret, I was very interested to find out that you have children, and
> a third one on the way!!  That's wonderful.  I was curious to know
> what your family life is like with little children.  I'm also
> wondering if there are any women on this site who have had children
> and what their experiences were.
> Kendra, thank you for your welcoming message.  How have you been?
>
> Amanda
>
>
>
>
> To unsubscribe from this group, send an email to:
> dysferlin-unsubscribe@yahoogroups.com
>
>
>
> Your use of Yahoo! Groups is subject to http://docs.yahoo.com/info/terms/
>
>

Hello,

I just wanted to thank everybody who responded to my email posted in
August.  I may have been very slow to reply, but I greatly
appreciated everybody's messages.

Mathew, my fellow-Ontarian...How are you?  Are you still lifting
weights?  I think it's great that you can still do that.  I'm
curious:  Do you see a doctor on a regular basis?  Since I've been
diagnosed, it seems I've been forgotten.  I haven't had any guidance
at all and I'm wondering if anybody else gets regular support,
advice, updates...anything?
Aman, it's great that you're attending medical school.
Congratulations!  I really hope you're able to conduct some
research, or at least, keep us informed on what's happening.  Good
luck in your studies.  How are you coping with life on campus?
Fret, I was very interested to find out that you have children, and
a third one on the way!!  That's wonderful.  I was curious to know
what your family life is like with little children.  I'm also
wondering if there are any women on this site who have had children
and what their experiences were.
Kendra, thank you for your welcoming message.  How have you been?

Amanda

Hi, welcome to the group:)

Kendra Carter-Hurte
Baltimore, MD

Hello! I haven't posted in over a year, but I do try to check
in regularly. I guess there aren't many of us out there so this group
is destined to move very slowly. ( much like most of us trying to
navigate uphill or the dreaded stairs)
         Brad, you and I haven't communicated in awhile so I was
wondering if you have made a full recovery from the broken leg. I
hope you are doing well.
         For those folks new to the group, I am male, 37 , with
LGMD2B. I also began to notice problems in my late teens, but chalked
it up to being out of shape. I too was very athletic (
quarterback,pitcher, and 1st seed on the tennis team ) and frustrated
with feeling clumsy, slow, and weak. I became confused and very
unhappy with myself. I'd convinced myself that I just wasn't working
hard enough to combat the "normal" aging process. As my body was
ravaging itself, I was doing the same on a mental level. It was so
bad that I was actually somewhat relieved when my sister called and
told me to get tested after she was diagnosed. Mentally, it was a
relief to learn about the disease and the slow progression. After a
year long search through uninformed and unsympathetic doctors, I
found a good one at the local md clinic and I had my answer.
       I continue to have high liver enzymes and ck. I guess
that's "normal" for us. I am now in a wheelchair part time and am
thankful to have it. My family ( wife and three children with another
due in november ) has rallied around me and provide me with
everything I could need. I am happy to accept my lot in life. This
new chapter certainly beats the last one where I was angry,
frustrated, and confused all the time. Hope this
helps.

            Fret
  --- In dysferlin@yahoogroups.com, "inquisitivemind3"
<inquisitivemind3@y...> wrote:
> Hello everybody,
>
> I'm so relieved to find a newsgroup dealing with dysferlin
deficiency.
>  I'm very interested in what others are going through.  Thank you
> Brad, for starting this.  Larry, no need to apologize for giving so
> much background.  As far as I'm concerned, the more I can learn
about
> what others are doing and experiencing, the better.  Lucinda, I was
> very interested in reading your detailed account.  Kendra, when you
> say, "no one really understands, since we look like everyone else,
> except when we fall and can't get up", I can totally relate.  I'm
> always afraid I'll fall and sometimes I get embarrassed when going
up
> stairs, looking so healthy, yet climbing at a snail's pace.
>
> Before I give the details of my background, I have a few questions:
>
> 1.Does anybody in this group have a history of MD in their family?
I
> don't and I often wonder if I inherited dysferlin-deficient LGMD, or
> have my genes mutated on their own?  I'm a quarter Colombian, a
> quarter British, and half Slovenian.  It seems very unlikely that I
> would inherit such a condition.
>
> 2.Marian, you said that exercise and physical therapy helped you
> regain some strength back.  I was wondering what you do to
exercise.
>
> 3. Most people mentioned high CPK and some inflammation.  I was
> wondering if anyone had a high level of liver enzymes (alt and
ast)?
> Mine seem to be 9 times higher than normal.  I also have myotonia,
> leading some doctors to think I had proximal myotonic myopathy
(PROMM).
>
> 4.  A neurologist I was seeing in Montreal recommended IVIGG
> (Intravenous Immunoglobulin) treatment and infusions of Solumedrol.
> He said that while it wouldn't cure, it might help the inflammation
> and increase my strength by about 20% with very little side-
effects.
> However, my province (Ontario) does not cover IVIGG for MD.  I was
> wondering if anybody knows if such a treatment helps.
>
> 5.  Has anybody tried any alternative medecine to slow down the
weakness?
>
> Here is my background:
> I used to work out quite aggressively almost everyday (weights,
> running, aerobics, biking) and considered myself in excellent shape,
> although my upper body seemed slightly weaker than most of my
friends.
>  My legs, on the other hand were stronger than average.  At the age
of
> 25, I went back to school, and being so busy, I didn't exercise as
> much.  A year later, I noticed I was having trouble running,
carrying
> my nephew, getting onto a bus, and doing some of the more
complicated
> salsa moves (my passion).  I thought I was simply out of shape, but
> when I tried to increase my level of exercise, I found it so
difficult
> to regain my strength back that I went to see a doctor, at age 28.
I
> was first diagnosed with polymiositis, but was reluctant to go on
> Prednison, preferring to seek a second opinion.  Two years later,
> after two muscle biopsies and consulting with many specialists, I'm
> finally diagnosed with LGMD 2B, although I'm still finding it hard
to
> believe and accept.
>
> In the last three years, I feel as though my muscle strength has
gone
> up and down.  Some weeks I find the stairs easier to handle, other
> times they're a real challenge.  Somedays, I have to spread my legs
> and push with all my strength to get up from a low seat, other
times I
> require a little less effort.  I can still walk comfortably and for
> long enough distances.  I find that being inactive makes me weaker,
> but am not sure how much to push myself when exercising.
>
> I hope people keep contributing to this newsgroup.  It certainly
makes
> me feel a little less alone.
>
> Amanda

Hello everybody,

I'm so relieved to find a newsgroup dealing with dysferlin deficiency.
I'm very interested in what others are going through.  Thank you
Brad, for starting this.  Larry, no need to apologize for giving so
much background.  As far as I'm concerned, the more I can learn about
what others are doing and experiencing, the better.  Lucinda, I was
very interested in reading your detailed account.  Kendra, when you
say, "no one really understands, since we look like everyone else,
except when we fall and can't get up", I can totally relate.  I'm
always afraid I'll fall and sometimes I get embarrassed when going up
stairs, looking so healthy, yet climbing at a snail's pace.

Before I give the details of my background, I have a few questions:

1.Does anybody in this group have a history of MD in their family?  I
don't and I often wonder if I inherited dysferlin-deficient LGMD, or
have my genes mutated on their own?  I'm a quarter Colombian, a
quarter British, and half Slovenian.  It seems very unlikely that I
would inherit such a condition.

2.Marian, you said that exercise and physical therapy helped you
regain some strength back.  I was wondering what you do to exercise.

3. Most people mentioned high CPK and some inflammation.  I was
wondering if anyone had a high level of liver enzymes (alt and ast)?
Mine seem to be 9 times higher than normal.  I also have myotonia,
leading some doctors to think I had proximal myotonic myopathy (PROMM).

4.  A neurologist I was seeing in Montreal recommended IVIGG
(Intravenous Immunoglobulin) treatment and infusions of Solumedrol.
He said that while it wouldn't cure, it might help the inflammation
and increase my strength by about 20% with very little side-effects.
However, my province (Ontario) does not cover IVIGG for MD.  I was
wondering if anybody knows if such a treatment helps.

5.  Has anybody tried any alternative medecine to slow down the weakness?

Here is my background:
I used to work out quite aggressively almost everyday (weights,
running, aerobics, biking) and considered myself in excellent shape,
although my upper body seemed slightly weaker than most of my friends.
My legs, on the other hand were stronger than average.  At the age of
25, I went back to school, and being so busy, I didn't exercise as
much.  A year later, I noticed I was having trouble running, carrying
my nephew, getting onto a bus, and doing some of the more complicated
salsa moves (my passion).  I thought I was simply out of shape, but
when I tried to increase my level of exercise, I found it so difficult
to regain my strength back that I went to see a doctor, at age 28.  I
was first diagnosed with polymiositis, but was reluctant to go on
Prednison, preferring to seek a second opinion.  Two years later,
after two muscle biopsies and consulting with many specialists, I'm
finally diagnosed with LGMD 2B, although I'm still finding it hard to
believe and accept.

In the last three years, I feel as though my muscle strength has gone
up and down.  Some weeks I find the stairs easier to handle, other
times they're a real challenge.  Somedays, I have to spread my legs
and push with all my strength to get up from a low seat, other times I
require a little less effort.  I can still walk comfortably and for
long enough distances.  I find that being inactive makes me weaker,
but am not sure how much to push myself when exercising.

I hope people keep contributing to this newsgroup.  It certainly makes
me feel a little less alone.

Amanda    









To unsubscribe from this group, send an email to:
dysferlin-unsubscribe@yahoogroups.com



Your use of Yahoo! Groups is subject to the Yahoo! Terms of Service.

----- Original Message -----

From: inquisitivemind3

To: dysferlin@yahoogroups.com

Sent: Friday, August 22, 2003 4:11 PM

Subject: [dysferlin] New to the group

Hello everybody,

I'm so relieved to find a newsgroup dealing with dysferlin deficiency.
I'm very interested in what others are going through.  Thank you
Brad, for starting this.  Larry, no need to apologize for giving so
much background.  As far as I'm concerned, the more I can learn about
what others are doing and experiencing, the better.  Lucinda, I was
very interested in reading your detailed account.  Kendra, when you
say, "no one really understands, since we look like everyone else,
except when we fall and can't get up", I can totally relate.  I'm
always afraid I'll fall and sometimes I get embarrassed when going up
stairs, looking so healthy, yet climbing at a snail's pace.

Before I give the details of my background, I have a few questions:

1.Does anybody in this group have a history of MD in their family?  I
don't and I often wonder if I inherited dysferlin-deficient LGMD, or
have my genes mutated on their own?  I'm a quarter Colombian, a
quarter British, and half Slovenian.  It seems very unlikely that I
would inherit such a condition.

2.Marian, you said that exercise and physical therapy helped you
regain some strength back.  I was wondering what you do to exercise.

3. Most people mentioned high CPK and some inflammation.  I was
wondering if anyone had a high level of liver enzymes (alt and ast)?
Mine seem to be 9 times higher than normal.  I also have myotonia,
leading some doctors to think I had proximal myotonic myopathy (PROMM).

4.  A neurologist I was seeing in Montreal recommended IVIGG
(Intravenous Immunoglobulin) treatment and infusions of Solumedrol.
He said that while it wouldn't cure, it might help the inflammation
and increase my strength by about 20% with very little side-effects.
However, my province (Ontario) does not cover IVIGG for MD.  I was
wondering if anybody knows if such a treatment helps.

5.  Has anybody tried any alternative medecine to slow down the weakness?

Here is my background:
I used to work out quite aggressively almost everyday (weights,
running, aerobics, biking) and considered myself in excellent shape,
although my upper body seemed slightly weaker than most of my friends.
My legs, on the other hand were stronger than average.  At the age of
25, I went back to school, and being so busy, I didn't exercise as
much.  A year later, I noticed I was having trouble running, carrying
my nephew, getting onto a bus, and doing some of the more complicated
salsa moves (my passion).  I thought I was simply out of shape, but
when I tried to increase my level of exercise, I found it so difficult
to regain my strength back that I went to see a doctor, at age 28.  I
was first diagnosed with polymiositis, but was reluctant to go on
Prednison, preferring to seek a second opinion.  Two years later,
after two muscle biopsies and consulting with many specialists, I'm
finally diagnosed with LGMD 2B, although I'm still finding it hard to
believe and accept.

In the last three years, I feel as though my muscle strength has gone
up and down.  Some weeks I find the stairs easier to handle, other
times they're a real challenge.  Somedays, I have to spread my legs
and push with all my strength to get up from a low seat, other times I
require a little less effort.  I can still walk comfortably and for
long enough distances.  I find that being inactive makes me weaker,
but am not sure how much to push myself when exercising.

I hope people keep contributing to this newsgroup.  It certainly makes
me feel a little less alone.

Amanda    









To unsubscribe from this group, send an email to:
dysferlin-unsubscribe@yahoogroups.com



Your use of Yahoo! Groups is subject to the Yahoo! Terms of Service.

Hello everybody,

I'm so relieved to find a newsgroup dealing with dysferlin deficiency.
  I'm very interested in what others are going through.  Thank you
Brad, for starting this.  Larry, no need to apologize for giving so
much background.  As far as I'm concerned, the more I can learn about
what others are doing and experiencing, the better.  Lucinda, I was
very interested in reading your detailed account.  Kendra, when you
say, "no one really understands, since we look like everyone else,
except when we fall and can't get up", I can totally relate.  I'm
always afraid I'll fall and sometimes I get embarrassed when going up
stairs, looking so healthy, yet climbing at a snail's pace.

Before I give the details of my background, I have a few questions:

1.Does anybody in this group have a history of MD in their family?  I
don't and I often wonder if I inherited dysferlin-deficient LGMD, or
have my genes mutated on their own?  I'm a quarter Colombian, a
quarter British, and half Slovenian.  It seems very unlikely that I
would inherit such a condition.

2.Marian, you said that exercise and physical therapy helped you
regain some strength back.  I was wondering what you do to exercise.

3. Most people mentioned high CPK and some inflammation.  I was
wondering if anyone had a high level of liver enzymes (alt and ast)?
Mine seem to be 9 times higher than normal.  I also have myotonia,
leading some doctors to think I had proximal myotonic myopathy (PROMM).

4.  A neurologist I was seeing in Montreal recommended IVIGG
(Intravenous Immunoglobulin) treatment and infusions of Solumedrol.
He said that while it wouldn't cure, it might help the inflammation
and increase my strength by about 20% with very little side-effects.
However, my province (Ontario) does not cover IVIGG for MD.  I was
wondering if anybody knows if such a treatment helps.

5.  Has anybody tried any alternative medecine to slow down the weakness?

Here is my background:
I used to work out quite aggressively almost everyday (weights,
running, aerobics, biking) and considered myself in excellent shape,
although my upper body seemed slightly weaker than most of my friends.
  My legs, on the other hand were stronger than average.  At the age of
25, I went back to school, and being so busy, I didn't exercise as
much.  A year later, I noticed I was having trouble running, carrying
my nephew, getting onto a bus, and doing some of the more complicated
salsa moves (my passion).  I thought I was simply out of shape, but
when I tried to increase my level of exercise, I found it so difficult
to regain my strength back that I went to see a doctor, at age 28.  I
was first diagnosed with polymiositis, but was reluctant to go on
Prednison, preferring to seek a second opinion.  Two years later,
after two muscle biopsies and consulting with many specialists, I'm
finally diagnosed with LGMD 2B, although I'm still finding it hard to
believe and accept.

In the last three years, I feel as though my muscle strength has gone
up and down.  Some weeks I find the stairs easier to handle, other
times they're a real challenge.  Somedays, I have to spread my legs
and push with all my strength to get up from a low seat, other times I
require a little less effort.  I can still walk comfortably and for
long enough distances.  I find that being inactive makes me weaker,
but am not sure how much to push myself when exercising.

I hope people keep contributing to this newsgroup.  It certainly makes
me feel a little less alone.

Amanda

Hi yall,

Children's Hospital in DC, which has a large and reputable research center, is
going to be studying DNA sequence/mutations in the dysferlin gene. I'm not sure
who one might contact if interested--the geneticist I work with happened by
chance to find out about it. Perhaps see the Web site for a contact. The study
doesn't seem to mentioned there; it's strictly research, not clinical.

Be well,
Marian Ryan

Marian Ryan
Managing Editor
Center for Pharmaceutical Management
Management Sciences for Health
Arlington, VA
Tel. 703-310-3484
Fax 703-524-6898


-----Original Message-----
From: dysferlin@yahoogroups.com [mailto:dysferlin@yahoogroups.com]
Sent: Thursday, May 08, 2003 9:02 AM
To: dysferlin@yahoogroups.com
Subject: [dysferlin] Digest Number 54


To unsubscribe from this group, send an email to:
dysferlin-unsubscribe@yahoogroups.com


------------------------------------------------------------------------

There is 1 message in this issue.

Topics in this digest:

       1. function of dysferlin discovered--Nature article
            From: "baw1064" <BWilliams16@...>


________________________________________________________________________
________________________________________________________________________

Message: 1
    Date: Thu, 08 May 2003 00:36:52 -0000
    From: "baw1064" <BWilliams16@...>
Subject: function of dysferlin discovered--Nature article

Hi everyone,

An article has just appeared in the scientific journal Nature which
reports some very interesting results on the dysferlin protein.  The
researchers created a breed of mouse which lacks dysferlin, and
compared the muscles of the dysferlin-deficient mouse to a type of
mouse that lacks dystrophin (the mdx mouse, which is an animal model
of Duchenne muscular dystrophy).

They made two major findings.

1) In the mdx mouse, the muscle cells were easily damaged by
exercise, much more so than in the normal mouse.  This was known
already, but the dysferlin-deficient mouse's muscles weren't any
more susceptible to damage than those of the normal mouse.  So
dysferlin isn't needed to protect the muscles from damage.

2) The researchers tested the ability of muscles to repair damage in
the cell membrane by using a laser to create damage in muscle cells
on a microscope slide.  In the normal mouse, the muscle cells could
quickly (within a minute or so) repair holes in the cell membrane if
there was calcium present outside the cell. [normally there is very
little calcium inside muscle cells, so the cells seem to use high
levels of calcium leaking into the cell as a signal that the cell
membrane is damaged and needs to be repaired].  In the muscle cells
from the mdx mouse, the repair mechanism worked the same as in the
normal mice.  In the dysferlin-deficient mouse, the repair mechanism
didn't work.

So:
Normal: muscle cells not easily damaged, and can repair themselves.
Mdx (no dystrophin): repair mechanism ok, but cells easily damaged.
eventually the damage overwhelms the repair mechanism.
No dysferlin: cells not easily damaged, but can't repair themselves
when they are damaged. Eventually damage builds up.

It's not known exactly how the details of the repair mechanism work,
or the exact role that dysferlin plays.  But the experiments in this
paper do show that dysferlin is needed for the process to work

the complete reference:
Defective membrane repair in dysferlin-deficient muscular dystrophy
DIMPLE BANSAL, KATSUYA MIYAKE, STEVEN S. VOGEL, SÉVERINE GROH, CHIEN-
CHANG CHEN, ROGER WILLIAMSON, PAUL L. MCNEIL & KEVIN P. CAMPBELL
Nature 423, 168-172 (2003); doi:10.1038/nature01573

web page with a summary:
http://www.nature.com/nature/links/030508/030508-1.html

You need a subscription to read the full article on the nature
site.  If you don't have access and want to read the article, write
me.

Brad




________________________________________________________________________
________________________________________________________________________



Your use of Yahoo! Groups is subject to http://docs.yahoo.com/info/terms/

Hi everyone. I am glad to find this group, and I look forward to
swapping thoughts, questions, info back and forth. The main thing I
want to address is rate of progression, and I am quite curious about
other LGMD-2B or MM patients' experiences and rate of progression.
Just a little of my background: I was extremely active and excelled
in most sports through my middle school / early high school years.
Somewhere between 8th and 10th grade, I began running much more
slowly, had difficulty jumping, and began losing much of my athletic
ability. Just thought I wasn't exercising, stretching, working out
correctly. Senior year in high school (1995), began tripping and had
difficulty climbing stairs. After muscle biopsy, EMG, etc. the docs
diagnosed me with Miyoshi. Prognosis was very slow progression, only
distal muscles, etc...2.5 years later I needed orthodics to prevent
toe-drop. 2 years after that I began using a manual chair. No longer
is it only distal, but proximal as well (biceps, deltoids, hip
flexors, etc) , so the diagnosis is now LGMD-2B. Couple of years
later, I began, and am now using a powered chair. So, I was diagnosed
at 17 (1995), I am now 25. Ok, maybe that was a lot of my background,
sorry. This progression seems quite quick compared to the research
reports. I would welcome anyone's thoughts.

peace...

Hi everyone,

An article has just appeared in the scientific journal Nature which
reports some very interesting results on the dysferlin protein.  The
researchers created a breed of mouse which lacks dysferlin, and
compared the muscles of the dysferlin-deficient mouse to a type of
mouse that lacks dystrophin (the mdx mouse, which is an animal model
of Duchenne muscular dystrophy).

They made two major findings.

1) In the mdx mouse, the muscle cells were easily damaged by
exercise, much more so than in the normal mouse.  This was known
already, but the dysferlin-deficient mouse's muscles weren't any
more susceptible to damage than those of the normal mouse.  So
dysferlin isn't needed to protect the muscles from damage.

2) The researchers tested the ability of muscles to repair damage in
the cell membrane by using a laser to create damage in muscle cells
on a microscope slide.  In the normal mouse, the muscle cells could
quickly (within a minute or so) repair holes in the cell membrane if
there was calcium present outside the cell. [normally there is very
little calcium inside muscle cells, so the cells seem to use high
levels of calcium leaking into the cell as a signal that the cell
membrane is damaged and needs to be repaired].  In the muscle cells
from the mdx mouse, the repair mechanism worked the same as in the
normal mice.  In the dysferlin-deficient mouse, the repair mechanism
didn't work.

So:
Normal: muscle cells not easily damaged, and can repair themselves.
Mdx (no dystrophin): repair mechanism ok, but cells easily damaged.
eventually the damage overwhelms the repair mechanism.
No dysferlin: cells not easily damaged, but can't repair themselves
when they are damaged. Eventually damage builds up.

It's not known exactly how the details of the repair mechanism work,
or the exact role that dysferlin plays.  But the experiments in this
paper do show that dysferlin is needed for the process to work

the complete reference:
Defective membrane repair in dysferlin-deficient muscular dystrophy
DIMPLE BANSAL, KATSUYA MIYAKE, STEVEN S. VOGEL, SÉVERINE GROH, CHIEN-
CHANG CHEN, ROGER WILLIAMSON, PAUL L. MCNEIL & KEVIN P. CAMPBELL
Nature 423, 168–172 (2003); doi:10.1038/nature01573

web page with a summary:
http://www.nature.com/nature/links/030508/030508-1.html

You need a subscription to read the full article on the nature
site.  If you don't have access and want to read the article, write
me.

Brad

Hello all (esp. Lucinda),

Because of recent efforts to get a DNA analysis of my dyferlin
genes--not to had currently, unless anyone knows otherwise (if so,
please advise!)--I found out that the blood test for dysferlinopathy
diagnosis is commercially available effective April 1 (today) from a
U.S. lab called Athena Diagnostics. According to their Web site, the
cost is $450.00. I don't know what the approaches of insurance companies
might be toward coverage. I doubt I will seek the test, as my other
results seem rather conclusive. But for those who haven't had a muscle
biopsy/staining for dysferlin, or who have had ambiguous results to
date, it should be quite useful.

As far as Lucinda's query about the progression of the disease, my
experience has been very different. However, it's true that the LGMDs
are believed to vary a good deal from one individual to another. I can't
recall my CK precisely, but it was slightly elevated; the doctors felt
that it was probably quite high a while back, when I was a teenager, and
that it since leveled off some. Through regular exercise/physical
therapy, I have been able to build some extra strength, but not a
significant amount to a "normal" person. And I have pretty much never
had normal strength, so my case doesn't have a lot in common with
Lucinda's--for what it's worth.

Take care all,
Marian Ryan
Virginia, USA

-----Original Message-----
From: dysferlin@yahoogroups.com [mailto:dysferlin@yahoogroups.com]
Sent: Monday, March 31, 2003 11:40 AM
To: dysferlin@yahoogroups.com
Subject: [dysferlin] Digest Number 51


To unsubscribe from this group, send an email to:
dysferlin-unsubscribe@yahoogroups.com


------------------------------------------------------------------------

There are 3 messages in this issue.

Topics in this digest:

       1. LGMD type 2B tests
            From: "lucinda_hodges" <glhodges@...>
       2. Re: LGMD type 2B tests
            From: "baw1064" <BWilliams16@...>
       3. Polymyositis or LGMD type 2B?
            From: "lucinda_hodges" <glhodges@...>


________________________________________________________________________
________________________________________________________________________

Message: 1
    Date: Sat, 29 Mar 2003 06:27:12 -0000
    From: "lucinda_hodges" <glhodges@...>
Subject: LGMD type 2B tests

I was wondering if anyone in this group knows any information about
current diagnostic tests available for LGMD type 2B.  I've read that
there are a number of specialist laboratories around the world that
will do this testing either on the muscle biopsy slide or by blood
sample but I need to know if it is possible for any lab to do these
tests?  My specialist has asked the lab techs here in New Zealand to
do these tests and they've supposidly been at it for 11 months.  How
difficult are these tests to perform and will our hospital lab techs
have the expertise to interpret the results?
Thanks for your help!
Lucinda





________________________________________________________________________
________________________________________________________________________

Message: 2
    Date: Sun, 30 Mar 2003 19:24:13 -0000
    From: "baw1064" <BWilliams16@...>
Subject: Re: LGMD type 2B tests

Hi Lucinda,

The diagnostic test currently done involves testing for the presence
of the dysferlin protein, using an antibody which recognizes
dysferlin.  Currently this is done using a muscle biopsy, although a
test is currently being developed do detect dysferlin in a certain
type of white blood cells, which would be convenient for a lot of
people because it wouldn't necessitate the trouble of a muscle
biopsy...
   As I understand it, performing the test is not all that
technically difficult; the antibodies which have been developed for
dysferlin detection are quite sensitive and are commercially
available.  There is a difficulty in that patients who have a
mutation in one gene sometimes show abnormalities in other muscle
proteins as a secondary effect.  For dysferlin, patients who have
genetically confirmed muscular dystrophy of other types have been
shown to sometimes exhibit abnormal expression or localization (not
in the proper place within the cell) of dysferlin.  So the protein
test is very useful, but probably shouldn't be the sole criterion
for a diagnosis--a patient's age, history, symptoms, and other tests
such as CK, EMG, etc. should be taken into account.
   I don't know specifically of laboratories in New Zealand who
perform the test (perhaps the MDA of NZ would be able to provide
this information?) I do know that the Children's Hospital in
Westmead, Sydney does this sort of testing and is currently
conducting research on dysferlin deficiency.

Hope this helps..best of luck to you!
Brad




________________________________________________________________________
________________________________________________________________________

Message: 3
    Date: Mon, 31 Mar 2003 02:20:59 -0000
    From: "lucinda_hodges" <glhodges@...>
Subject: Polymyositis or LGMD type 2B?

Thanks Brad for the very helpful information on diagnostic testing.
I've been wondering if anyone in this group has had a similar
experience of rate of progression of muscle weakness or similar on-
going CK values to my disease course?
Up until three years ago I was normal (fit enough, a scuba-diver and
a very happy person who enjoyed life).  We had spent the summer
holiday travelling part of the coast of Australia and life was truely
brill - I was 33.  I started back to school for the new year (I'm a
chemistry teacher) and I began to notice that I had difficulty
getting back onto the dive boat when I was fully kitted with my
weight belt and tank (I used to help out with the school dive club).
I also couldn't lift a TV we had at school that I hadn't had any
problems with lifting the term before.  Over the next 10 weeks I lost
16 kg in weight.  I couldn't run, it was really difficult to get up
out of a chair, walk up stairs, if I lay down I couldn't sit forward
at all, turning over in bed was difficult, it got to the stage that I
couldn't drive the car because I couldn't turn my neck to check what
was around me and holding my legs in the positions needed to operate
the peddles was impossible.  I was sent to see a specialist
neurologist who did a muscle biopsy.  The muscle biopsy showed
inflammation.  My CK was 15,500.  I was put on 50mg of Prednisone
daily.  I was sent for a second opinion to a specialist Rhematologist
who agreed with the diagnosis.  My CK was 10,000 so she also started
me on immune-suppressants (the dose was increased to 20mg once
weekly).  My CK dropped and flucated around 5,000 for the next year.
As soon as I was put on the Prednisone I had problems - I kept
crying, alsorts were happening in my head.  My specialist said it was
an unfortunate side effect of Prednisone and that he would get the
dose down just as soon as he could.  I started having palpatations
(they called it) where my heart kept beating really fast for no
reason when I wasn't doing anything - maybe it was the weight loss or
stress or something.  I'm not sure why but the Rheumatologist thought
my heart muscle might have been involved and so sent me for an EMG.
I was leaving the hospital after the appointment and collapsed in the
hospital.  They took me to ED - I had really bad pins and needles in
my hands and feet.  The blood tests they did showed that I had raised
levels of Troponin I (a substance that is released into the blood
after a heart attack.  It's also suppose to be made by regenerating
muscle tissue)- That week I had a heart biopsy which was found to be
normal, I'd just fainted!  My muscle strength over the next year did
improve slowly and I returned to near normal strength.  My mental
condition however deteriorated and things got so bad that they had to
drop me off the Prednisone fast - I'd been on 30mg of Prednisone for
all that time.  The mental pain I suffered was unbearable. I've spent
3 years with clinical depression and was put me on relevant
medication for it.  About a year ago I decided I'd had enough and
stopped taking all my drugs.  Without the immune-suppressants my
specialist expected that the polymyositis would flare but it didn't.
My CK stayed between 3,000 and 5,000 and I didn't get really weak
again.  My specialist thinks now that it might be LGMD type 2B
because it is the same muscles that are affected (muscles closest to
the trunk) and it's not following the normal pattern for
polymyositis.  I thought that LGMD was a progressive disease and that
you wouldn't regain strength once it was lost.  It doesn't really
seem to be following a typical LGMD pattern either or have people had
similar experiences of being weak and then getting stronger again?
What typical CK values do you all have?
Any information re your experiences would be really appreciated.
Lucinda




________________________________________________________________________
________________________________________________________________________



Your use of Yahoo! Groups is subject to
http://docs.yahoo.com/info/terms/

Hello, I just found out that a member of our family is
diagnosed with Miyoshi Myopathy. How can I help?

__________________________________________________
Do you Yahoo!?
Yahoo! Tax Center - File online, calculators, forms, and more
http://platinum.yahoo.com

Hello All

My name is Aman and I have had a similar experience.  In high school, I had elevated liver enzymes but no symptoms.  I weightlifted, ran track, and played hours upon hours of basketball.  After taking classes in college and not being as physically active, I noticed one day that I could not tippy-toe.  Doctors performed 2 muscle biopsies and concluded that I had polymyositis.  However, treatment with prednisone and methotrexate did not decrease my CK levels (around 16,000).  After a 3rd biopsy, I was diagnosed with LGMD-2B.  I have not regained any strength and I walk with a cane now.  I have been put on Dantrium 100 mg and my CK levels have gone down considerably (5,000).  If anyone has any suggestions for me at all (diet, exercise, research treatments etc) I would appreciate them.  Thanks.

Aman   

 lucinda_hodges <glhodges@...> wrote:

Thanks Brad for the very helpful information on diagnostic testing. 
I've been wondering if anyone in this group has had a similar
experience of rate of progression of muscle weakness or similar on-
going CK values to my disease course?
Up until three years ago I was normal (fit enough, a scuba-diver and
a very happy person who enjoyed life).  We had spent the summer
holiday travelling part of the coast of Australia and life was truely
brill - I was 33.  I started back to school for the new year (I'm a
chemistry teacher) and I began to notice that I had difficulty
getting back onto the dive boat when I was fully kitted with my
weight belt and tank (I used to help out with the school dive club). 
I also couldn't lift a TV we had at school that I hadn't had any
problems with lifting the term before.  Over the next 10 weeks I lost
16 kg in weight.  I couldn't run, it was really difficult to get up
out of a chair, walk up stairs, if I lay down I couldn't sit forward
at all, turning over in bed was difficult, it got to the stage that I
couldn't drive the car because I couldn't turn my neck to check what
was around me and holding my legs in the positions needed to operate
the peddles was impossible.  I was sent to see a specialist
neurologist who did a muscle biopsy.  The muscle biopsy showed
inflammation.  My CK was 15,500.  I was put on 50mg of Prednisone
daily.  I was sent for a second opinion to a specialist Rhematologist
who agreed with the diagnosis.  My CK was 10,000 so she also started
me on immune-suppressants (the dose was increased to 20mg once
weekly).  My CK dropped and flucated around 5,000 for the next year.
As soon as I was put on the Prednisone I had problems - I kept
crying, alsorts were happening in my head.  My specialist said it was
an unfortunate side effect of Prednisone and that he would get the
dose down just as soon as he could.  I started having palpatations
(they called it) where my heart kept beating really fast for no
reason when I wasn't doing anything - maybe it was the weight loss or
stress or something.  I'm not sure why but the Rheumatologist thought
my heart muscle might have been involved and so sent me for an EMG. 
I was leaving the hospital after the appointment and collapsed in the
hospital.  They took me to ED - I had really bad pins and needles in
my hands and feet.  The blood tests they did showed that I had raised
levels of Troponin I (a substance that is released into the blood
after a heart attack.  It's also suppose to be made by regenerating
muscle tissue)- That week I had a heart biopsy which was found to be
normal, I'd just fainted!  My muscle strength over the next year did
improve slowly and I returned to near normal strength.  My mental
condition however deteriorated and things got so bad that they had to
drop me off the Prednisone fast - I'd been on 30mg of Prednisone for
all that time.  The mental pain I suffered was unbearable. I've spent
3 years with clinical depression and was put me on relevant
medication for it.  About a year ago I decided I'd had enough and
stopped taking all my drugs.  Without the immune-suppressants my
specialist expected that the polymyositis would flare but it didn't. 
My CK stayed between 3,000 and 5,000 and I didn't get really weak
again.  My specialist thinks now that it might be LGMD type 2B
because it is the same muscles that are affected (muscles closest to
the trunk) and it's not following the normal pattern for
polymyositis.  I thought that LGMD was a progressive disease and that
you wouldn't regain strength once it was lost.  It doesn't really
seem to be following a typical LGMD pattern either or have people had
similar experiences of being weak and then getting stronger again? 
What typical CK values do you all have?
Any information re your experiences would be really appreciated.
Lucinda 




To unsubscribe from this group, send an email to:
dysferlin-unsubscribe@yahoogroups.com



Your use of Yahoo! Groups is subject to the Yahoo! Terms of Service.

Thanks Brad for the very helpful information on diagnostic testing.
I've been wondering if anyone in this group has had a similar
experience of rate of progression of muscle weakness or similar on-
going CK values to my disease course?
Up until three years ago I was normal (fit enough, a scuba-diver and
a very happy person who enjoyed life).  We had spent the summer
holiday travelling part of the coast of Australia and life was truely
brill - I was 33.  I started back to school for the new year (I'm a
chemistry teacher) and I began to notice that I had difficulty
getting back onto the dive boat when I was fully kitted with my
weight belt and tank (I used to help out with the school dive club).
I also couldn't lift a TV we had at school that I hadn't had any
problems with lifting the term before.  Over the next 10 weeks I lost
16 kg in weight.  I couldn't run, it was really difficult to get up
out of a chair, walk up stairs, if I lay down I couldn't sit forward
at all, turning over in bed was difficult, it got to the stage that I
couldn't drive the car because I couldn't turn my neck to check what
was around me and holding my legs in the positions needed to operate
the peddles was impossible.  I was sent to see a specialist
neurologist who did a muscle biopsy.  The muscle biopsy showed
inflammation.  My CK was 15,500.  I was put on 50mg of Prednisone
daily.  I was sent for a second opinion to a specialist Rhematologist
who agreed with the diagnosis.  My CK was 10,000 so she also started
me on immune-suppressants (the dose was increased to 20mg once
weekly).  My CK dropped and flucated around 5,000 for the next year.
As soon as I was put on the Prednisone I had problems - I kept
crying, alsorts were happening in my head.  My specialist said it was
an unfortunate side effect of Prednisone and that he would get the
dose down just as soon as he could.  I started having palpatations
(they called it) where my heart kept beating really fast for no
reason when I wasn't doing anything - maybe it was the weight loss or
stress or something.  I'm not sure why but the Rheumatologist thought
my heart muscle might have been involved and so sent me for an EMG.
I was leaving the hospital after the appointment and collapsed in the
hospital.  They took me to ED - I had really bad pins and needles in
my hands and feet.  The blood tests they did showed that I had raised
levels of Troponin I (a substance that is released into the blood
after a heart attack.  It's also suppose to be made by regenerating
muscle tissue)- That week I had a heart biopsy which was found to be
normal, I'd just fainted!  My muscle strength over the next year did
improve slowly and I returned to near normal strength.  My mental
condition however deteriorated and things got so bad that they had to
drop me off the Prednisone fast - I'd been on 30mg of Prednisone for
all that time.  The mental pain I suffered was unbearable. I've spent
3 years with clinical depression and was put me on relevant
medication for it.  About a year ago I decided I'd had enough and
stopped taking all my drugs.  Without the immune-suppressants my
specialist expected that the polymyositis would flare but it didn't.
My CK stayed between 3,000 and 5,000 and I didn't get really weak
again.  My specialist thinks now that it might be LGMD type 2B
because it is the same muscles that are affected (muscles closest to
the trunk) and it's not following the normal pattern for
polymyositis.  I thought that LGMD was a progressive disease and that
you wouldn't regain strength once it was lost.  It doesn't really
seem to be following a typical LGMD pattern either or have people had
similar experiences of being weak and then getting stronger again?
What typical CK values do you all have?
Any information re your experiences would be really appreciated.
Lucinda

Hi Lucinda,

The diagnostic test currently done involves testing for the presence
of the dysferlin protein, using an antibody which recognizes
dysferlin.  Currently this is done using a muscle biopsy, although a
test is currently being developed do detect dysferlin in a certain
type of white blood cells, which would be convenient for a lot of
people because it wouldn't necessitate the trouble of a muscle
biopsy...
   As I understand it, performing the test is not all that
technically difficult; the antibodies which have been developed for
dysferlin detection are quite sensitive and are commercially
available.  There is a difficulty in that patients who have a
mutation in one gene sometimes show abnormalities in other muscle
proteins as a secondary effect.  For dysferlin, patients who have
genetically confirmed muscular dystrophy of other types have been
shown to sometimes exhibit abnormal expression or localization (not
in the proper place within the cell) of dysferlin.  So the protein
test is very useful, but probably shouldn't be the sole criterion
for a diagnosis--a patient's age, history, symptoms, and other tests
such as CK, EMG, etc. should be taken into account.
   I don't know specifically of laboratories in New Zealand who
perform the test (perhaps the MDA of NZ would be able to provide
this information?) I do know that the Children's Hospital in
Westmead, Sydney does this sort of testing and is currently
conducting research on dysferlin deficiency.

Hope this helps..best of luck to you!
Brad

I was wondering if anyone in this group knows any information about
current diagnostic tests available for LGMD type 2B.  I've read that
there are a number of specialist laboratories around the world that
will do this testing either on the muscle biopsy slide or by blood
sample but I need to know if it is possible for any lab to do these
tests?  My specialist has asked the lab techs here in New Zealand to
do these tests and they've supposidly been at it for 11 months.  How
difficult are these tests to perform and will our hospital lab techs
have the expertise to interpret the results?
Thanks for your help!
Lucinda

Hi everyone!
Nice to be back!
Thank you Brad for filling in my last message for me:)

Concerning RNA interference/ repairing.
An intro to this new kind of post-genomique potential
therapeutic (?) method  by the French media ( sure, a very
fashionable topic!)
http://fr.news.yahoo.com/020827/108/2q8k6.html
For more:
http://www.medhyg.ch/mh/infos/print.php3?sid=792
(articles are in French. You can have the English web page
translation using the  google one line translator
http://www.google.fr/language_tools?hl=fr)

In summary, the RNA interference notion is the story of Pr Richard A.
Jorgensen, a vegetal biologist and his petunias experiment.
Intoducing an inhibitor RNA in the a pink petunia genome, he obtained
a white one. Hence the term of antisens RNA aiming at deactivating a
gene.
But renewing the experience with the same gene as the naturel one,
logic would result in pink  + pink = deep purple pink, since pink -
pink =white.
Clearely; in mathematical equation 1-1 =0 so 1+1 = 2
But biology and Nature defy mathematical laws: because  pink + pink
gave  white petunia too! 1+1 = 0!
Consequently, the same sequence of a known gene of an RNA can silence
the gene instead of  over expressing it: that's the mecanism of the
RNA interference. How is it regulated concerns the  RNA repairing
function . So that could reactivate as well as deactivated  a gene.
( Am I correct Sophareth?)
Experiences were repeated and valid in the animal ( C elegans/
drosophila /Pr Andrew Fire Université Johns Hopkins de Baltimore).
Main applications in vitro tend to try  virus ( HIV/ polyomyelitis
virus) cells immunization, with good results it might seems...

FYI , i ve heard of 2 research projects  about it and MD subventioned
by the Laval University in Canada but very few infos are available
about them:
http://www.ulaval.ca/vrr/rech/Proj/Int3425.html
1-Ribozyme and antisense RNA as a tool to study myotonic dystrophy/M.
Jack Puymirat
2-Treatment of Duchenne muscular dystrophy : correction of mutated
dystrophin mRNA with ribozymes/M. Jacques-P. Tremblay

Interesting "little" story, isn't it?

Nat

A friend of mine, Ricardo Rojas, has proposed establishing Sept. 17
(the birthday of Dr. Guillaume Duchenne, who gave the first clinical
description of the form of muscular dystrophy which now bears his
name) as International Muscular Dystrophy and Neuromuscular Diseases
Day.  The website for this undertaking is
http://www25.brinkster.com/distrofia/manifiesto/entrada.htm  It has
links to a number of interesting sites!

I'm posting this message for natalisan, who is currently having
internet connection trouble :-(  The decrypthon acts as a sort of
screen saver, to have your computer analyze protein sequences and
expression while it would otherwise be "sleeping"  Now that the human
genome has been largely sequenced, the next large challenge in
molecular biology is to understand the functions and
interrelationships of the proteins coded for by the genome.

********

The decrypthon project aims at sequencing the proteome: listing all
the  proteins in our living world, in order
to understand better their function, knowing they are the expression
of genes.
Proteins Dysfunction or lack  is the cause of disease.
If we can relate a genetic disease to a chromosome mutation,
reseachers don't know yet how it functions.
Proteins are in beetween, comprehending their dysfunction  might be a
way to further our knowledge and
to find a cure.

Decrypthon data base is available for the scientific community.
www.infobiogen.fr/services/decrypthon/index.html

Regards to all

Nat

Dear sophareth and all,

Ok, to avoid all confusion, you can call me Nat all ( shorter, et
cuter than Phalevi, duh?)

Just checked the scheme in the photos album:

What a pity, the comments are quite difficult to read!
OK, I'll have to clear my understandings about the repair factors
(ribozym?)

When how and why are they activated?  are you trying to tell
RNA repair mecanisms could repair any mutated target RNA?
But how to make it them fix a chosen target RNA, on condition the
mutation is
known?(necessity to map the dysferlin gene and sequencing the profil
expression mutations ? and right, microarray methods are very hopeful
in that case and several studies are involved with them..
think we should heard of it from the july NMD conference...)

Isn't that a research work about the understanding and regulation of
RNA expression
and transcription?
Couldn't it be considered like an universal and general processus?...
Applying it to dysferlinopathies as potential way of correction,
might it be
prematured  or appropriate (i don't really know...),  or just an idea
among others,
an original application idea...

Nat

* part to remove*
Brad i have just the time to send you a wink;-)  before returning on
my own bussiness ( just have 2 days off, they pitied me because of
Mrs Ankle!)
Hope you are well and....not too confused.... oops, (hope we shall
time to talk about it later).  I apologize for all the confusion.
Ok going back cleaning my mails and the rest which do need it!
A+ and tc
ps, be lenient if i overwhelmed your mail boxes, i have a lot to say
and you know how much i'm talkative, don't you...

Mmmh ...i try the reply way but not sure it worked so i'm  re-posting
the message.

Dear dysferliners,

I've posted in the group bookmark a few links which might interested
some of you about MD infos.
One of them is the URL of the dysferlin website created by our
dearest moderator:)
I was thinking in the case you had trouble with your own browser to
reach it, you could try to use the link from the yahoogroupe.

Just one question to Brad. What is that URL i found :
http://sites.netscape.net/ , i can't open?

Best regards

Nat