Calpainopathy-a survey of mutations and polymorphisms.

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family. This re...

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Detalhes bibliográficos
Main Authors: Richard, I, Roudaut, C, Saenz, A, Pogue, R, Grimbergen, J E, Anderson, L V, Beley, C, Cobo, A M, de Diego, C, Eymard, B, Gallano, P, Ginjaar, H B, Lasa, A, Pollitt, C, Topaloglu, H, Urtizberea, J A, de Visser, M, van der Kooi, A, Bushby, K, Bakker, E, Lopez de Munain, A, Fardeau, M, Beckmann, J S
Formato: Artigo
Idioma:Inglês
Publicado em: 1999
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377896/
https://ncbi.nlm.nih.gov/pubmed/10330340
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