limb girdle muscular dystrophy type 2H

(redirected from sarcotubular myopathy)

limb girdle muscular dystrophy type 2H

A 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.

Molecular pathology
Defects of TRIM32, which encodes a trim motif protein that acts as an E3 ubiquitin-protein ligase, cause limb-girdle muscular dystrophy type 2H.