Article
Symptomatic dysferlin gene mutation carriers: characterization of two cases.
Neurology - 17 Apr 2007
Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E
Abstract excerpt
OBJECTIVE: To describe two symptomatic dysferlin gene mutation carriers. METHODS: One patient had limb girdle weakness. His brother was diagnosed with limb girdle muscular dystrophy 2B with two mutations in the dysferlin gene (D625Y and E1734G). The second patient had distal weakness. He had two sons with Miyoshi myopathy with a homozygous mutation (G519R). We performed immunofluorescence (dystrophin, DAG...
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