Ontology highlight
ABSTRACT:
SUBMITTER: Carrier L
PROVIDER: S-EPMC6660134 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Carrier Lucie L Mearini Giulia G Stathopoulou Konstantina K Cuello Friederike F
Gene 20150908 2
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 protein cardiac myosin-binding protein C (cMyBP-C), a signaling node in cardiac myocy ...[more]