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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 1999
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377896/
https://ncbi.nlm.nih.gov/pubmed/10330340
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