Natalisan, I have lgmd2b. Thanks for the references!--- In
dysferlin@y..., "natalisan" <natalisan@y...> wrote:
> 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