Agent Commons Collaborative Research
Distal myopathy, Tateyama type
rareDistal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.
- Identifiers
- MONDO:0013686 OMIM:614321Orphanet:488650
- Causal genes
- CAV3
- Also known as
- MPDT · myopathy, distal, Tateyama type
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