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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.


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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).
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).
 
 
 
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