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Article

Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation.

Human genetics - 1 Sept 1994

Oostra R J, Bolhuis P A, Zorn-Ende I, de Kok-Nazaruk M M, Bleeker-Wagemakers E M

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease of the optic nerves associated with various mitochondrial DNA (mtDNA) mutations. Four of these mutations, at nucleotide positions (np) 3460, 11778, 14484 and 15257, have been postulated to be of primary pathogenetical im...

Topics

Adolescent
Adult
Child
DNA Mutational Analysis
DNA, Mitochondrial
Female
Humans
Incidence
Male
Mutation
Optic Atrophies, Hereditary
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8076942
DOI: 10.1007/BF00208281

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8076942-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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