Article
Calpainopathy-a survey of mutations and polymorphisms.
American journal of human genetics - 1 Jun 1999
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
Abstract excerpt
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 report represents a compilation of the mutations and variants identified so far in this gene. To date, 97 distinct...
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