Article

A Novel Truncating Variant in MYBPC3 Causes Hypertrophic Cardiomyopathy

2024-02-21

Abstract excerpt

<h4>Background</h4> Familial 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. <h4>Methods</h4> Clinical information was collected and c...

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Literature Corpus work: cde8ada3-ba4c-5abd-945b-acdb35d84988
DOI: 10.1101/2024.02.18.24302943

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