Article
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
Clinical genetics - 1 Jun 2000
Park K Y, Dalakas M C, Semino-Mora C, Lee H S, Litvak S, Takeda K, Ferrans V J, Goldfarb L G
Abstract excerpt
Desmin myopathy is a familial or sporadic disorder characterized by intracytoplasmic accumulation of desmin in the muscle cells. We and others have previously identified desmin gene mutations in patients with familial myopathy, but close to 45% of the patients do not report previous family history of the disease. The present study was conducted to determine the cause of desmin myopathy in a sporadic patient...
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