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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. Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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