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Article

[Mitochondrial ND5 as the causative gene of Leight syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2010

Wang Kang, Yan Chuan-zhu, Wang Guo-xiang, Jiao Jing-song, Jin Miao

Abstract excerpt

OBJECTIVE: To report a Chinese Han family with two patients of Leigh syndrome (LS) and to scan the mutation in mitochondrial DNA(mtDNA). METHODS: The clinical features and the laboratory findings were summarized. Mitochondrial DNA chip and direct sequencing were performed to detect the mutation in entire mtDNA. RESULTS: Failure of thrive, psychomotor retardation, hypotonia and weakness, cerebellar ataxia, and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21154318
DOI: 10.3760/cma.j.issn.1003-9406.2010.06.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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