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A Novel Truncating Variant in MYBPC3 Causes Hypertrophic Cardiomyopathy

2024-02-21 cardiovascular medicine Title + abstract only
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BackgroundFamilial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. Related mutations contributing to hypercontractility and poor relaxation in HCM have been incompletely understood. The purpose of this study was to explore and verify a novel variant in cardiac myosin-binding protein C3 (MYBPC3) in a HCM family. MethodsClinical information was collected and cardiac evaluation was performed in the pedigree. Second-generation sequencing technology was used to i...

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