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Article

Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy.

Medicine - 1 Aug 2017

Yuan Hai-Xin, Yan Kai, Hou Dong-Yan, Zhang Zhi-Yong, Wang Hua, Wang Xin, Zhang Juan, Xu Xiao-Rong, Liang Yan-Hong, Zhao Wen-Shu, Xu Lin, Zhang Lin

Abstract excerpt

Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation, and is associated with systolic dysfunction and increased action potential duration. Approximately 50% of DCM cases are caused by inherited gene mutations with genetic and phenotypic heterogeneity. Next generation sequencing may be useful in screening unknown mutations in such cases.A family was identified with DCM, in which the affected...

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Topics

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Share to Cardiomyopathy, Dilated
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Polymorphism, Single Nucleotide

Share to Potassium Channels, Inwardly Rectifying

Source

Open in PubMed Open full text

Identifiers

PMID: 28816949
DOI: 10.1097/MD.0000000000007727
PMCID: PMC5571686

Genes

KCNJ12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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