Article
D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.
European journal of human genetics : EJHG - 1 May 2016
Levitas Aviva, Konstantino Yuval, Muhammad Emad, Afawi Zaid, Marc Weinstein Jean, Amit Guy, Etzion Yoram, Parvari Ruti
Abstract excerpt
Dilated cardiomyopathy (DCM) and malignant ventricular arrhythmias are important causes of congestive heart failure, heart transplantation, and sudden cardiac death in young patients. Cypher/ZASP is a cytoskeletal protein localized in the sarcomeric Z-line that has a pivotal role in maintaining adult cardiac structure and function. The putative mutation p.(D117N) in Cypher/ZASP has been suggested to cause...
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