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Article

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

American journal of human genetics - 1 Mar 1991

Vilkki J, Ott J, Savontaus M L, Aula P, Nikoskelainen E K

Abstract excerpt

Leber hereditary optic neuroretinopathy (LHON) is a maternally inherited disease, probably transmitted by mutations in mtDNA. The variation in the clinical expression of the disease among family members has remained unexplained, but pedigree data suggest an involvement of an X-chromosomal factor. We have studied genetic linkage of the liability to develop optic atrophy to 15 polymorphic markers on the X...

Topics

Adult
Chromosome Mapping
DNA, Mitochondrial
Female
Genetic Carrier Screening
Genetic Linkage
Humans
Male
Mutation
Optic Atrophies, Hereditary
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Recombination, Genetic

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 1998335
PMCID: PMC1682980

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1998335-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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