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Article

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

American journal of human genetics - 2 Jan 2020

Alston Charlotte L, Veling Mike T, Heidler Juliana, Taylor Lucie S, Alaimo Joseph T, Sung Andrew Y, He Langping, Hopton Sila, Broomfield Alexander, Pavaine Julija, Diaz Jullianne, Leon Eyby, Wolf Philipp, McFarland Robert, Prokisch Holger, Wortmann Saskia B, Bonnen Penelope E, Wittig Ilka, Pagliarini David J, Taylor Robert W

Abstract excerpt

Leigh syndrome is one of the most common neurological phenotypes observed in pediatric mitochondrial disease presentations. It is characterized by symmetrical lesions found on neuroimaging in the basal ganglia, thalamus, and brainstem and by a loss of motor skills and delayed developmental milestones. Genetic diagnosis of Leigh syndrome is complicated on account of the vast genetic heterogeneity with >75...

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Identifiers

PMID: 31866046
DOI: 10.1016/j.ajhg.2019.12.001
PMCID: PMC7042492

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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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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.PMID 31866046Read ↗

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The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.Semantic proximity Read ↗

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Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.Semantic proximity Read ↗

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