Article
Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy.
Genes - 22 May 2021
Ferradini Valentina, Parca Luca, Martino Annamaria, Lanzillo Chiara, Silvetti Elisa, Calò Leonardo, Caselli Stefano, Novelli Giuseppe, Helmer-Citterich Manuela, Sangiuolo Federica Carla, Mango Ruggiero
Abstract excerpt
BACKGROUND: Arrhythmogenic Cardiomyopathy (ACM) is a disease of the cardiac muscle, characterized by frequent ventricular arrhythmias and functional/ structural abnormalities, mainly of the right ventricle. To date, 20 different genes have been associated with ACM and the majority of them encode for desmosomal proteins. In this study, we describe the characterization of two novel variants in MHY7 gene,...
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