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Article

Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome.

Journal of human genetics - 1 Feb 2017

Xu Bing, Li Xiyuan, Du Miaomiao, Zhou Chao, Fang Hezhi, Lyu Jianxin, Yang Yanling

Abstract excerpt

By using next-generation sequencing targeted to MitoExome including the entire mtDNA and exons of 1033 genes encoding the mitochondrial proteome, we described here a novel m.11240C>T mutation in the mitochondrial ND4 gene from a patient with Leigh syndrome. High mutant loads of m.11240C>T were detected in blood, urinary epithelium, oral mucosal epithelium cells, and skin fibroblasts of the patient. Decreased...

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Share to Adenosine Triphosphate
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27761019
DOI: 10.1038/jhg.2016.127

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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