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Article

Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy.

BMC cardiovascular disorders - 20 Dec 2025

Jiao Kailu, Gong Ke, Luo Yong, Liu RuiLin, Wang Lei, Yao Yao, Xie Li

Abstract excerpt

BACKGROUND: Dilated cardiomyopathy (DCM) is a genetic cardiac disorder characterized by ventricular dilation and systolic dysfunction. Mutations in calcium-handling genes such as JPH2, which plays a critical role in maintaining cardiac dyad integrity, have been associated with DCM. Although more than 20 JPH2 variants have been reported, most lack functional validation. This study investigates the ClinVar-listed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41422197
DOI: 10.1186/s12872-025-05443-8
PMCID: PMC12838430

Genes

JPH2
MYH7
MAF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy.PMID 41422197Read ↗

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