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Article

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.

Molecular genetics and metabolism - 1 Jan 2000

Lebon Sophie, Minai Limor, Chretien Dominique, Corcos Johanna, Serre Valérie, Kadhom Noman, Steffann Julie, Pauchard Jean-Yves, Munnich Arnold, Bonnefont Jean-Paul, Rötig Agnès

Abstract excerpt

Complex I deficiency is a frequent cause of mitochondrial disease as it accounts for one third of these disorders. By genotyping several putative disease loci using microsatellite markers we were able to describe a new NDUFS7 mutation in a consanguineous family with Leigh syndrome and isolated complex I deficiency. This mutation lies in the first intron of the NDUFS7 gene (c.17-1167 C>G) and creates a strong...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17604671
DOI: 10.1016/j.ymgme.2007.05.010

Genes

NDUFS7

Provenance

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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