Article
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
American journal of human genetics - 1 May 1997
Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder J M, Chemaly R, Garcia C A, Halaby G, Jackson C E, Kurnit D M, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann J S
Abstract excerpt
Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle-specific calpain, were used to identify this gene as the genetic site responsible for autosomal recessive LGMD type 2A (LGMD2A; MIM 253600). Analyses of the segregation of markers flanking the LGMD2A locus and a search for CANP3 mutations were...
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