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Article

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.

Orphanet journal of rare diseases - 28 Feb 2024

Abu Hanna Firas, Zehavi Yoav, Cohen-Barak Eran, Khayat Morad, Warwar Nasim, Shreter Roni, Rodenburg Richard J, Spiegel Ronen

Abstract excerpt

BACKGROUND: Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. Biallelic pathogenic variants in NDUFAF2, encoding the nuclear assembly CI factor NDUFAF2, were initially reported to cause progressive encephalopathy beginning in infancy. Since the initial...

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Source

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Identifiers

PMID: 38419071
DOI: 10.1186/s13023-024-03094-0
PMCID: PMC10900632

Genes

NDUFAF2
VDAC1

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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