Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy
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Mutations in cardiac myosin binding protein C (MYBPC3) represent the most frequent cause of familial hypertrophic cardiomyopathy (HCM), making up approximately 50% of identified HCM mutations. MYBPC3 is distinct among other sarcomere genes associated with HCM ... ...