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Article

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

Molecular genetics and metabolism - 1 Mar 2017

Baertling Fabian, Sánchez-Caballero Laura, Timal Sharita, van den Brand Mariël Am, Ngu Lock Hock, Distelmaier Felix, Rodenburg Richard Jt, Nijtmans Leo Gj

Abstract excerpt

NDUFAF3 is an assembly factor of mitochondrial respiratory chain complex I. Variants in NDUFAF3 have been identified as a cause of severe multisystem mitochondrial disease. In a patient presenting with Leigh syndrome, which has hitherto not been described as a clinical feature of NDUFAF3 deficiency, we identified a novel homozygous variant and confirmed its pathogenicity in patient fibroblasts studies....

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Source

Identifiers

PMID: 27986404
DOI: 10.1016/j.ymgme.2016.12.005

Genes

NDUFAF3

Provenance

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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Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.PMID 27986404Read ↗

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