limb girdle muscular dystrophy type 2G

limb girdle muscular dystrophy type 2G

A rare autosomal recessive degenerative myopathy (OMIM:601954) characterised by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy and absence of telethonin (titin cap); cardiac muscle is involved in some patients.

Molecular pathology
Defects of TCAP, which encodes a protein that regulates muscle assembly, cause limb-girdle muscular dystrophy type 2G.