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Article

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.

American journal of medical genetics. Part A - 1 Jun 2025

Gaignard Pauline, Becker Pierre-Hadrien, Dessein Anne-Frederique, Lebigot Elise, Slama Abdelhamid, Mention Karine, Ghoumid Jamal

Abstract excerpt

Pathogenic variants in the nuclear gene NDUFAF8 are a rare cause of mitochondrial complex I deficiency with only three cases described to date. We report here a new case of NDUFAF8 deficiency confirming the phenotype of NDUFAF8-induced complex I biochemical defect, Leigh syndrome and premature death. As a mitochondrial DNA variant in a gene encoding a complex I subunit was also identified in this patient, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39921456
DOI: 10.1002/ajmg.a.64019

Genes

NDUFAF8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.PMID 39921456Read ↗

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