Article
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
The New England journal of medicine - 16 Mar 2000
Dalakas M C, Park K Y, Semino-Mora C, Lee H S, Sivakumar K, Goldfarb L G
Abstract excerpt
BACKGROUND: Myofibrillar myopathies, often referred to as desmin-related myopathies, are a heterogeneous group of inherited or sporadic distal-onset skeletal myopathies associated with cardiomyopathy. Among the myofibrillar proteins that characteristically accumulate within the muscle fibers of affected patients, the one found most consistently is desmin, a muscle-specific intermediate-filament protein...
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