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Reply | Forward Message #66 of 592 |
Dave,

May I ask you what form (Miyoshi distal form / LGMD2 B form) of
dysferlinopathies you have?

Concerning books references, I don't think being helpful unless you
can read french.

All the english bibliography I know belong to specialized medical or
sciences journals/ articles/ reports.
I'm not aware of a book dealing specifically with dysferlin/
dysferlinoparhies so I guess one of these days
reseachers and physicians would have to write it.

The first time i 've heard of dyferlinopathies was last year when I
made a work about muscle biopsy for a pathological anatomy
certificate.
Since, I'm like you, I'm furthering my education.

I've learned that dysferlinopathies are heterogenous muscular
diseases. They have autosomal recessive inheritance and are caused by
dysferlin deficiency (a muscle cell manbrane protein).
According to the medical literature, there are 3 foms for the moment
described. The first one was the Miyoshi myopathy, the LGMD 2B, and
more recently an anterior tibial form. It might be possible that
other clinical forms would be discovered in the future...

Except the LGMD form, the symptoms known are mostly distal MD.

If you want a general view of it, you should look for the topic:
distal myopathies, --i think it will refer you easily to
dysferlinopathies/ lGMD--, in general neurology ou muscle diseases
books. (Myology, the muscle study, is becoming its own science but
stays for the moment as a neurology notion)

In France we have a book called " traité de medcine" or the "
Godeau" Pierre Godeau an internist M.D. is the author with other
french specialists. That book is a sort of general/internal medecine
encyplopedia. The MD chapter, written by Pr Fardeau who is
the "myologist" reference in France, is a very good introduction to
MD world, on the historical, clinical, diagnostic tools POV.

GODEAU Pierre, HERSON Serge, PIETTE Jean-Charles, Traité de
médecine, - Flammarion, 1996.

I want to add 2 links you can find in the enmc.org site ( european
Neuromuscular center). The articles below are extracted from the
book "Diagnostic Criteria in NMD edited by Prof. A.E.H. Emery" only
avaible for the scientists fellowship ( Thanks Dysf for reminding me
of that site;-))

1- about distal myopathy
http://www.enmc.org/pdf/emery61.pdf
2- about LGMD by Bushby K
http://www.enmc.org/pdf/emery17.pdf

Since 94/98 infos has improving but that could be a introduction to
dysferlinopathies.

Hope it might be helpful.

Phalevi





Sat Apr 20, 2002 10:46 am

natalisan
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Message #66 of 592 |
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Dave, May I ask you what form (Miyoshi distal form / LGMD2 B form) of dysferlinopathies you have? Concerning books references, I don't think being helpful...
natalisan
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Apr 20, 2002
10:46 am

Natalisan, I have lgmd2b. Thanks for the references!--- In ... or ... by ... moment ... medecine ... me...
fretmaster6
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Apr 21, 2002
3:54 pm
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