1. Truncating mutations in cardiac myosin-binding protein C (MYBPC3) are a common genetic cause of hypertrophic cardiomyopathy.
2. Haploinsufficiency of MYBPC3 results in cardiomyocyte hypercontractility and impaired relaxation by altering dynamic myosin configurations.
Evidence Rating Level: 2
Study Rundown: Hypertrophic cardiomyopathy (HCM) is a disease that causes thickening of the heart...