Article
A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.
Neuromuscular disorders : NMD - 1 Jun 1998
van der Kooi A J, de Visser M, van Meegen M, Ginjaar H B, van Essen A J, Jennekens F G, Jongen P J, Leschot N J, Bolhuis P A
Abstract excerpt
Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtype, LGMD2C, has been linked to chromosome 13, and is caused by gamma-sarcoglycan deficiency in muscle. This report describes a novel missense mutation identified in a large consanguineous Dutch family with LGMD. This mutation leads to reduction of gamma-sarcoglycan, and gives rise to a childhood-onset,...
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