Article
Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.
Gene - 1 Dec 2015
Carrier Lucie, Mearini Giulia, Stathopoulou Konstantina, Cuello Friederike
Abstract excerpt
More than 350 individual MYPBC3 mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations, making it the most frequently mutated gene in HCM. HCM is considered a disease of the sarcomere and is characterized by left ventricular hypertrophy, myocyte disarray and diastolic dysfunction. MYBPC3 encodes for the thick filament associated...
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