Article
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.
European journal of human genetics : EJHG - 1 Dec 2016
Reinstein Eyal, Gutierrez-Fernandez Ana, Tzur Shay, Bormans Concetta, Marcu Shai, Tayeb-Fligelman Einav, Vinkler Chana, Raas-Rothschild Annick, Irge Dana, Landau Meytal, Shohat Mordechai, Puente Xose S, Behar Doron M, Lopez-Otın Carlos
Abstract excerpt
In the vast majority of pediatric patients with dilated cardiomyopathy, the specific etiology is unknown. Studies on families with dilated cardiomyopathy have exemplified the role of genetic factors in cardiomyopathy etiology. In this study, we applied whole-exome sequencing to members of a non-consanguineous family affected by a previously unreported congenital dilated cardiomyopathy syndrome necessitating...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.