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.
References in periodicals archive ?
Even though limb girdle muscular dystrophy type 2G (lGMD2G) was first described in Brazil, cases have been reported of patients of Indian, Moldavian, Portuguese, Chinese, and Australian origins, either as limb girdle muscular dystrophy or as congenital muscular dystrophy.
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.