Dear Lisa,

My name is Laura and I work for the Jain Foundation, a non-profit
foundation in the US that is dedicated soley to helping find therapies
for LGMD2B. You can find out more about the foundation by going to
https://www.jain-foundation.org/index.php.

There are many forms of limb girdle muscular dystrophy (LGMDs)that are
caused by DNA mutations in a number of different genes. You can go to
the following website to get information on the various forms of LGMD
(http://www.neuro.wustl.edu/neuromuscular/musdist/lg.html). The way
these different forms of LGMD are differentiated is by assigning
letters and numbers to each form. The "2" in LGMD2B indicates that
this form of LGMD is recessive, which means that both copies of the
gene have a DNA mutation. A "1" after LGMD indicates the disease is
domiant, meaning only one copy of the gene has DNA mutations. The "B"
in LGMD2B indicates that this form of LGMD is caused by DNA mutations
in the dysferlin gene. If you don't have mutations in the dysferlin
gene than you don't have LGMD2B. That doesn't mean you don't have limb
girdle muscular dystrophy, it just means that the cause of your LGMD is
not in the dysferlin gene, but in another gene.

Regarding your case in particular, you said that you were diagnosed
with LGMD2B with the help of a muscle biopsy. I have a few questions
that will help me better answer your questions.

1. Do you know what findings on the biopsy lead your doctors to the
LGMD2B diagnosis?
2. Do you know if you have every had a test that looked for the level
of your dysferlin protein (which is made by the dysferlin DNA) either
in your blood or in the muscle biopsy?
3. Do you know what lab did the test that looked for mutations in your
dysferlin gene?

Finding mutations in dysferlin can be difficult. There are 55 pieces
of DNA that must be checked. Also, not all mutation are detectable
using the general way to look at the DNA and in those cases other
specialized techniques need to be used. I'm not saying that the lab
who did your DNA analysis on dysferlin is wrong, but just that it can
be a complicated issue.

If you have had a test that showed that your dysferlin protein (which
is made by your dysferlin DNA) is missing or reduced than that
increases your likelihood that the cause of your LGMD is a problem with
dysferlin. If that is the case, it might be worth pursuing further
analysis of your dysferlin gene. However, there are cases where
patients with reduced dysferlin protein levels have mutations in
another gene called Calpain, which is associated with LGMD2A (The A
indicates the Calpain gene). Therefore, if your tests showed you have
reduced dysferlin protein, than you may want to be tested for DNA
mutations in Calpain.

On the other hand, if you have had a test that showed you make normal
amounts of dysferlin protein, than is more likely that the cause of
your LGMD is in another gene. In that case you should talk with your
doctor about what other possibilities there are and what tests can be
done to check this. There are a number of other genes that are
associated with LGMDs that are available for DNA mutation analysis.

I know that this is a long and somewhat complicated email, but I hope
that I have answered your questions clearly. I would be happy to speak
with you more if you have any additional quesitons. My direct email is
lrufibach@.... Also, as I said earlier you can find a
lot of information about LGMD2B and the Jain foundation at our web
site https://www.jain-foundation.org/index.php.

Sincerely,
Laura Rufibach
Director of Research
Jain Foundation



--- In dysferlin@yahoogroups.com, "lisa.paivinen" <lisa.paivinen@...>
wrote:
>
> Hello everybody!
>
> My name is Lisa and I am from Sweden. I was diagnosed with LGMD 2B in
> October 2006 (with help of a muscle biopsy). In December 2006 I took
a
> blood sample to confirm the diagnosis with help of DNA. Last week I
got
> the answer, there is no mutation in my Dysferlin gene.
>
> How usual is it to have LGMD 2B/Miyoshis myopathy but no mutation on
> the dysferlin gene. Could that indicate that I have something else
than
> LGMD 2B?
>
> Thanks in advance!
>