Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by selective atrophy of the proximal limb muscles. Its occurrence is correlated, in a large number of patients, with defects in the human CAPN3 gene, a gene that encodes the skeletal muscle-specific memb...

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Bibliografiske detaljer
Main Authors: Jia, Z, Petrounevitch, V, Wong, A, Moldoveanu, T, Davies, P L, Elce, J S, Beckmann, J S
Format: Artigo
Sprog:Inglês
Udgivet: 2001
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1301447/
https://ncbi.nlm.nih.gov/pubmed/11371436
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