Definition:

Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies characterized by a progressive weakness of the pelvic and shoulder girdle musculature. It has been reported that loss-of-function mutations in caveolin-3 gene are associated with a form of muscular dystrophy, LGMD1C. Caveolins are the principal protein components of caveolae which represent appendages or sub-compartments of plasma membranes.