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Article

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

EMBO molecular medicine - 6 Nov 2020

Alahmad Ahmad, Nasca Alessia, Heidler Juliana, Thompson Kyle, Oláhová Monika, Legati Andrea, Lamantea Eleonora, Meisterknecht Jana, Spagnolo Manuela, He Langping, Alameer Seham, Hakami Fahad, Almehdar Abeer, Ardissone Anna, Alston Charlotte L, McFarland Robert, Wittig Ilka, Ghezzi Daniele, Taylor Robert W

Abstract excerpt

Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolated respiratory chain complex I deficiency. Clinical heterogeneity has been reported, but key diagnostic findings are developmental regression, elevated lactate and...

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Identifiers

PMID: 32969598
DOI: 10.15252/emmm.202012619
PMCID: PMC7645371

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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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Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.PMID 32969598Read ↗

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