Article
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.
European journal of human genetics : EJHG - 1 Jan 2014
Rutschow Désirée, Bauer Ralf, Göhringer Caroline, Bekeredjian Raffi, Schinkel Stefanie, Straub Volker, Koenen Michael, Weichenhan Dieter, Katus Hugo A, Müller Oliver J
Abstract excerpt
So far, the role of mutations in the δ-sarcogylcan (Sgcd) gene in causing autosomal dominant dilated cardiomyopathy (DCM) remains inconclusive. A p.S151A missense mutation in exon 6 of the Sgcd gene was reported to cause severe isolated autosomal dominant DCM without affecting skeletal muscle. This is controversial to our previous findings in a large consanguineous family where this p.S151A mutation showed no...
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