myofibrillar myopathy type 2(redirected from alpha B crysallinopathy)
myofibrillar myopathy type 2A 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.
Defects of CRYAB, which encodes alpha crystallin B, cause myofibrillar myopathy type 2.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.