Agent Commons Collaborative Research
MYH7-related skeletal myopathy
rareA rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.
- Identifiers
- MONDO:0008050 OMIM:160500Orphanet:59135
- Part of
- Congenital myopathyCongenital nervous system disorderDistal myopathyNeuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
- Also known as
- distal myopathy type 1 · Laing distal myopathy · MPD1 · myopathy distal, type 1 · myopathy, distal, 1
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