Article
Clinical variability in calpainopathy: what makes the difference?
European journal of human genetics : EJHG - 1 Dec 2002
de Paula Flávia, Vainzof Mariz, Passos-Bueno Maria Rita, de Cássia M Pavanello Rita, Matioli Sergio Russo, V B Anderson Louise, Nigro Vincenzo, Zatz Mayana
Abstract excerpt
Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders characterised by progressive weakness of the pelvic and shoulder girdle muscles and a great variability in clinical course. LGMD2A, the most prevalent form of LGMD, is caused by mutations in the calpain-3 gene (CAPN-3). More than 100 pathogenic mutations have been identified to date, however few genotype : phenotype correlation...
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