desmin-related myofibrillar myopathy; desmin-related cardioskeletal myopathy
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Pathology
- intracytoplasmic accumulation of desmin-reactive deposits in cardiac & skeletal muscle cells
Genetics
- associated with defects in desmin
Clinical manifestations
- skeletal muscle weakness
- cardiac conduction blocks
- arrhythmias,
- restrictive heart failure
- desmin-related myopathy can have a distal onset; it is then known as hereditary distal myopathy