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Article

Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex

2 Sept 2011

Abstract excerpt

Cardiomyopathy is a puzzling complication in addition to skeletal muscle pathology for patients with mutations in β-, γ- or δ-sarcoglycan (SG) genes. Patients with mutations in α-SG rarely have associated cardiomyopathy, or their cardiac pathology is very mild. We hypothesize that a fifth SG, ε-SG, may compensate for α-SG deficiency in the heart. To investigate the function of ε-SG in striated muscle, we...

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PMID: 21890494
DOI: 10.1093/hmg/ddr398

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Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complexPMID 21890494Read ↗

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