Abstract
Limb-girdle muscular dystrophy (LGMD) type 2C results from mutations in the γ-sarcoglycan gene, causing loss of functional protein. It is characterized by muscle weakness and progressive muscle wasting. The sarcoglycans (α, β, γ, and δ-SG) are structural proteins localized at the cell membrane of muscle fibers that together with dystrophin and other proteins make up the dystrophin-associated protein complex (DAPC). Loss of functional protein in this complex results in an unstable sarcolemma leading to eventual myofiber death.
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