The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy.

doi:10.1002/ana.410440208

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Article

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy.

Annals of neurology - 1 Aug 1998

Cock H R, Tabrizi S J, Cooper J M, Schapira A H

Abstract excerpt

The role of mitochondrial DNA (mtDNA) mutations in the pathogenesis of Leber's hereditary optic neuropathy (LHON) has yet to be characterized. Several clinical features of the disease imply that nuclear genes might also be involved in its expression. We have confirmed the presence of a severe NAD...

Topics

Adult
Clone Cells
DNA Fingerprinting
DNA, Mitochondrial
Electron Transport
Female
Fibroblasts
Genetic Markers
Genotype
Humans
Male
Middle Aged
Mutation
NAD(P)H Dehydrogenase (Quinone)
Optic Atrophies, Hereditary
Phenotype
Statistics, Nonparametric

Source

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Identifiers

PMID: 9708540
DOI: 10.1002/ana.410440208

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9708540-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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