Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations
MC Dalakas, A Dagvadorj, B Goudeau, KY Park… - Neuromuscular …, 2003 - Elsevier
Desmin myopathy is a familial or sporadic disorder characterized by the presence of desmin
mutations that cause skeletal muscle weakness associated with cardiac conduction block,
arrhythmia and heart failure. Distinctive histopathologic features include intracytoplasmic
accumulation of desmin-reactive deposits and electron-dense granular aggregates in
skeletal and cardiac muscle cells. We describe two families with features of adult-onset
slowly progressive skeletal myopathy without cardiomyopathy. N342D point mutation was …
mutations that cause skeletal muscle weakness associated with cardiac conduction block,
arrhythmia and heart failure. Distinctive histopathologic features include intracytoplasmic
accumulation of desmin-reactive deposits and electron-dense granular aggregates in
skeletal and cardiac muscle cells. We describe two families with features of adult-onset
slowly progressive skeletal myopathy without cardiomyopathy. N342D point mutation was …
