Article
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
Neurology - 10 Oct 2000
Sugawara M, Kato K, Komatsu M, Wada C, Kawamura K, Shindo P S, Yoshioka P N, Tanaka K, Watanabe S, Toyoshima I
Abstract excerpt
OBJECTIVE: To determine the cause and pathogenic mechanisms of a 21-year-old patient's cardioskeletal myopathy. The patient's muscle atrophy and weakness began in distal parts of limbs; cardiac and facial muscles were later involved. BACKGROUND: Desmin myopathy is a skeletal myopathy often associated with cardiomyopathy, caused by mutations in the desmin gene and characterized by desmin accumulation in affected...
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