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Article

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

The Journal of clinical investigation - 1 Sept 2004

Kirby Denise M, Salemi Renato, Sugiana Canny, Ohtake Akira, Parry Lee, Bell Katrina M, Kirk Edwin P, Boneh Avihu, Taylor Robert W, Dahl Hans-Henrik M, Ryan Michael T, Thorburn David R

Abstract excerpt

complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I-deficient patients. We investigated whether there may be an unknown common gene by performing functional complementation analysis of cell lines...

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Source

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Identifiers

PMID: 15372108
DOI: 10.1172/JCI20683
PMCID: PMC516258

Genes

NDUFS6

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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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.PMID 15372108Read ↗

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