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

Abstract 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...

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Principais autores: Kailu Jiao, Ke Gong, Yong Luo, RuiLin Liu, Lei Wang, Yao Yao, Li Xie
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-12-01
Serier:BMC Cardiovascular Disorders
Fag:
Dilated cardiomyopathy1
Mutation2
JPH23
Genome4
Whole-exome sequencing5
Online adgang:https://doi.org/10.1186/s12872-025-05443-8
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