Term Name
myofibrillar myopathy 2
External Reference
Synonyms
CRYAB autosomal dominant distal myopathy, myofibrillar myopathy type 2, myopathy, myofibrillar, type 2, autosomal dominant distal myopathy caused by mutation in CRYAB, alpha-B crystallinopathy, late-onset distal crystallinopathy
Definition
Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.