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Article

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.

Neurology - 25 May 2004

Procaccio Vincent, Wallace Douglas C

Abstract excerpt

Analysis of the complex I NDUFS8 gene from Leigh syndrome patients with isolated complex I deficiency revealed that one patient with late-onset disease and partial complex I defect was a compound heterozygote for two novel mutations in NDUFS8 gene. Western blot analysis revealed a deficiency in the NDUFS8 polypeptide, but also reductions in other nuclear subunits of complex I, suggesting that this subunit is...

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Source

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Identifiers

PMID: 15159508
DOI: 10.1212/01.wnl.0000125251.56131.65
PMCID: PMC2821060

Genes

NDUFS8

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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