sarcoglycanopathy


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sarcoglycanopathy

Neurology A genetic defect of α-, β-, γ, and δ-sarcoglycans–of the sarcoglycan complex; a mutation of a gene that encodes any sarcoglycan leads to destabilization of the entire complex and 2º deficiency of sarcoglycan proteins; some Pts with AR muscular dystrophy have underlying sarcoglycanopathies. See Dystrophin-associated proteins, Limb-muscle dystrophy. Cf Dystrophin.
References in periodicals archive ?
org) announced today that it has released the first patient registry for Limb Girdle Muscular Dystrophy, Type 2C, also known as gamma sarcoglycanopathy (LGMD2C).
Today, the laboratory of the AFM is preparing gene therapy clinical trials for neuromuscular disorders (Duchenne muscular dystrophy, sarcoglycanopathy, calpainopathy) and that of the immune system (Wiskott-Aldrich Syndrome).