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Article

The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy.

Journal of medical genetics - 1 Mar 2014

Liu Zhong, Song Yanrui, Li Dan, He Xiangyu, Li Shishi, Wu Bifeng, Wang Wei, Gu Shulian, Zhu Xiaoyu, Wang Xuexiang, Zhou Qiyin, Dai Yu, Yan Qingfeng

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a primary disorder characterised by asymmetric thickening of septum and left ventricular wall, with a prevalence of 0.2% in the general population. OBJECTIVE: To describe a novel mitochondrial DNA mutation and its association with the pathogenesis of HCM. METHODS AND RESULTS: All maternal members of a Chinese family with maternally transmitted HCM exhibited...

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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: 24367055
DOI: 10.1136/jmedgenet-2013-101818
PMCID: PMC3932983

Genes

MYBPC3
MYH7
TNNI3
TNNT2

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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