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inclusion body myopathy 3 (IBM3)
Pathology:
- rimmed vacuoles
- type 2A fibers frequently abnormal
- other fiber types appear normal
Genetics:
- autosomal dominant
- associated with defects in MYH2
Clinical manifestations:
- joint contracture
- ophthalmoplegia
Related
inclusion body myositis (inflammatory myositis, IBM)
General
inclusion body myopathy
Database Correlations
OMIM 605637
References
OMIM :accession 605637