Article
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
Muscle & nerve - 1 Mar 2006
Hermanová Markéta, Zapletalová Eva, Sedlácková Jana, Chrobáková Tána, Letocha Ondrej, Kroupová Iva, Zámecník Josef, Vondrácek Petr, Mazanec Radim, Maríková Tatána, Vohánka Stanislav, Fajkusová Lenka
Abstract excerpt
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal-recessive disorder characterized by selective atrophy and progressive weakness of proximal girdle muscles. LGMD2A, the most prevalent form of LGMD, is caused by mutations in the CAPN3 gene that encodes the skeletal muscle-specific member of the calpain family, calpain-3 (p 94). We examined the histopathologic and molecular pathologic findings in 14...
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