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Article

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

American journal of medical genetics. Part A - 1 Jan 2007

Sarzi Emmanuelle, Brown Michael D, Lebon Sophie, Chretien Dominique, Munnich Arnold, Rotig Agnès, Procaccio Vincent

Abstract excerpt

Defects in NADH:ubiquinone oxidoreductase (complex I), the largest complex of the mitochondrial respiratory chain, account for most cases of respiratory chain deficiency in human. Complex I contains at least 45 subunits, 7 of which are encoded by mitochondrial DNA (mtDNA). Here we report a novel 10197G>A mutation of the ND3 gene in three unrelated families with Leigh syndrome (LS) or dystonia. Variable degrees of...

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Source

Identifiers

PMID: 17152068
DOI: 10.1002/ajmg.a.31565

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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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