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<i>MYBPC3</i>(c.194C>T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of dilated cardiomyopathy revealed by hiPSC modeling

2025-02-23

Abstract excerpt

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and the primary indication for heart transplantation. The intricate and poorly elucidated pathogenesis of genetic DCM, coupled with the paucity of effective therapeutic options, imposes a substantial burden on both patients and their families. In this study, we identified a novel MYBPC3 mutation (c.194C>T) in a patient diagnosed with DCM and establis...

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Literature Corpus work
de63d66b-0deb-5613-8b65-dcf0459aef65
DOI
10.1101/2025.02.17.25321993
Open publication

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<i>MYBPC3</i>(c.194C>T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of dilated cardiomyopathy revealed by hiPSC modelingDOI 10.1101/2025.02.17.25321993
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