Myofibrillar myopathy 2

Definition

Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.

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, myofibrillar myopathy type 2, myopathy, myofibrillar, type 2 — per MONDO

Also identified as

• DOID 0080093 per MONDO
• MESH C563848 per MONDO
• OMIM 608810 per MONDO
• Orphanet 399058 per MONDO
• UMLS C1837317 per MONDO