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Article

Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.

Pediatric neurology - 1 Jan 2007

Laugel Vincent, This-Bernd Valérie, Cormier-Daire Valérie, Speeg-Schatz Claude, de Saint-Martin Anne, Fischbach Michel

Abstract excerpt

Mitochondrial disorders can be linked to mutations in both mitochondrial and nuclear deoxyribonucleic acid, corresponding to various clinical phenotypes. Mutations in nuclear genes, including NDUFV1, have been associated with severe encephalomyopathies in infants, but genotype-phenotype correlati...

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Source

Identifiers

PMID: 17162199
DOI: 10.1016/j.pediatrneurol.2006.08.007

Genes

NDUFV1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17162199-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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