limb girdle muscular dystrophy type 2H
limb girdle muscular dystrophy type 2HA clinically variable, autosomal recessive degenerative myopathy (OMIM:254110) characterised by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Disease progression is slow; most patients remain ambulatory into the sixth decade of life.
Defects of TRIM32, which encodes a trim motif protein that acts as an E3 ubiquitin-protein ligase, cause limb-girdle muscular dystrophy type 2H.
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