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Article

MYBPC3 (c.194 C > T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by HiPSC modeling.

Cellular and molecular life sciences : CMLS - 18 Feb 2026

Xie Manting, Xie Bingbing, Huang Liang, Chen Ying, Lai Xingqiang, Yan Mingqi, Gong Jixing, Cao Nan, Xiang Andy Peng, Xiang Qiuling

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...

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Source

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Identifiers

PMID: 41703309
DOI: 10.1007/s00018-026-06130-3
PMCID: PMC12932816

Genes

MYBPC3
CASQ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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