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desmin-related myofibrillar myopathy; desmin-related cardioskeletal myopathy
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
General
myofibrillar myopathy
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 601419
References
OMIM :accession 601419