Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

Abstract excerpt

OBJECTIVE: To describe the clinical phenotype of an autosomal-dominant pedigree with myotilinopathy. METHODS: Two symptomatic patients and six asymptomatic gene mutation carriers were examined. We performed serum chemistry, electrophysiological assessments, magnetic resonance imaging (MRI) of lower limb musculature, histochemical and immunohistochemical studies of a muscle biopsy and mutation analysis of the...

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