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Article

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Annals of neurology - 1 Mar 2008

Berger Itai, Hershkovitz Eli, Shaag Avraham, Edvardson Simon, Saada Ann, Elpeleg Orly

Abstract excerpt

Complex I deficiency is the most common respiratory chain defect, clinically manifesting by severe neonatal lactic acidosis, Leigh's disease, or various combinations of cardiac, hepatic, and renal disorders. Using homozygosity mapping, we identified a splice-site mutation in the NDUFA11 gene in s...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18306244
DOI: 10.1002/ana.21332

Genes

NDUFA11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18306244-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.PMID 18306244Read ↗

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