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Article

MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy.

Clinical chemistry and laboratory medicine - 23 Feb 2018

Yuan Fang, Qiu Zhao-Hui, Wang Xing-Hua, Sun Yu-Min, Wang Jun, Li Ruo-Gu, Liu Hua, Zhang Min, Shi Hong-Yu, Zhao Liang, Jiang Wei-Feng, Liu Xu, Qiu Xing-Biao, Qu Xin-Kai, Yang Yi-Qing

Abstract excerpt

BACKGROUND: The MADS-box transcription factor myocyte enhancer factor 2C (MEF2C) is required for the cardiac development and postnatal adaptation and in mice-targeted disruption of the MEF2C gene results in dilated cardiomyopathy (DCM). However, in humans, the association of MEF2C variation with DCM remains to be investigated. METHODS: The coding regions and splicing boundaries of the MEF2C gene were sequenced in...

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Source

Identifiers

PMID: 28902616
DOI: 10.1515/cclm-2017-0461

Genes

GATA4
HAND1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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