Article
Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities.
Neuromuscular disorders : NMD - 1 Dec 1996
Fardeau M, Eymard B, Mignard C, Tomé F M, Richard I, Beckmann J S
Abstract excerpt
Erb's type limb-girdle muscular dystrophy (LGMD) was identified and clinically studied in detail in a small community living in the Reunion Island (RI). It was linked to chromosome 15q and related to mutations in the muscle specific calpain 3 gene. A series of cases were afterwards clinically and genetically identified in the French metropolitan community. The phenotype was identical to the RI type in the great...
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