Article
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.
American journal of medical genetics - 10 Apr 2000
McNally E M, Ly C T, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson L V, Soffer D, Argov Z
Abstract excerpt
Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with Limb-Girdle Muscular Dystrophy 2B, a disorder that affects the proximal musculature. Despite the phenotypic differences, the types of mutations associated with Miyoshi myopathy and Limb-Girdle Muscular Dystrophy 2B do not differ significantly. Thus,...
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