Article
Molecular and muscle pathology in a series of caveolinopathy patients.
Human mutation - 1 Jan 2005
Fulizio Luigi, Nascimbeni Anna Chiara, Fanin Marina, Piluso Giulio, Politano Luisa, Nigro Vincenzo, Angelini Corrado
Abstract excerpt
Mutations in the caveolin-3 gene (CAV3) cause limb girdle muscular dystrophy (LGMD) type 1C (LGMD1C) and other muscle phenotypes. We screened 663 patients with various phenotypes of unknown etiology, for caveolin-3 protein deficiency, and we identified eight unreported caveolin-deficient patients (from seven families) in whom four CAV3 mutations had been detected (two are unreported). Following our wide...
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