myofibrillar myopathy type 2

(redirected from myopathy, desmin-related, associated with mutation in CRYAB)

myofibrillar myopathy type 2

A neuromuscular disorder (OMIM:608810) characterised by weakness of the proximal and distal limb muscles, as well as neck, velopharynx and trunk muscles; hypertrophic cardiomyopathy; and cataracts in some patients. 

Molecular pathology
Defects of CRYAB, which encodes alpha crystallin B, cause myofibrillar myopathy type 2.