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Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree.

Gene - 15 Sept 2012

Liu Zhong, Song Yanrui, Gu Shulian, He Xiangyu, Zhu Xiaoyu, Shen Yaoyao, Wu Bifeng, Wang Wei, Li Shishi, Jiang Pingping, Lu Jianhua, Huang Wendong, Yan Qingfeng

Abstract excerpt

Hypertrophic cardiomyopathy is a primary disorder characterized by asymmetric thickening of the septum and left ventricular wall, which affects 1 in 500 individuals in the general population. Mutations in mitochondrial DNA have been found to be one of the most important causes of hypertrophic cardiomyopathy. Here we report the clinical, genetic and molecular characterization of a Han Chinese family with a likely...

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PMID: 22759514
DOI: 10.1016/j.gene.2012.06.071

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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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