limb girdle muscular dystrophy type 2J

limb girdle muscular dystrophy type 2J

An 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.

Molecular pathology
Defects of TTN, which encodes a critical protein in striated muscle, cause limb-girdle muscular dystrophy type 2J.