limb girdle muscular dystrophy type 2J
limb girdle muscular dystrophy type 2JAn autosomal recessive degenerative myopathy (OMIM:608807) characterised by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability occurs within two decades of onset.
Defects of TTN, which encodes a critical protein in striated muscle, cause limb-girdle muscular dystrophy type 2J.
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