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DIASTOLIC FUNCTION IN MYOSIN-BINDING PROTEIN C FOUNDER MUTATION CARRIERS WITH AND WITHOUT CLINICAL EVIDENCE OF HYPERTROPHIC CARDIOMYOPATHY

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The MYBPC3 (Myosin-binding protein C) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland, allowing unique opportunity to explore the relation between genotype and clinical phenotype.… Click to show full abstract

The MYBPC3 (Myosin-binding protein C) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland, allowing unique opportunity to explore the relation between genotype and clinical phenotype. This study explores the burden of diastolic dysfunction in a

Keywords: myosin binding; hypertrophic cardiomyopathy; binding protein; founder mutation

Journal Title: Journal of the American College of Cardiology
Year Published: 2019

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