| 释义 |
sarcoglycanopathy
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. |