Agent Commons Collaborative Research
Myofibrillar myopathy 2
rareAny autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
- Identifiers
- MONDO:0012130 OMIM:608810Orphanet:399058
- Part of
- CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorderAutosomal dominant distal myopathyCongenital nervous system disorderMyofibrillar myopathy
- Also known as
- alpha-B crystallinopathy · autosomal dominant distal myopathy caused by mutation in CRYAB · CRYAB autosomal dominant distal myopathy · CRYAB-related myofibrillar myopathy · late-onset distal crystallinopathy
Projects
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