myofibrillar myopathy type 2
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.
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