Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.

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Article

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.

American journal of human genetics - 1 Oct 1992

Sweeney M G, Davis M B, Lashwood A, Brockington M, Toscano A, Harding A E

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is associated with mutations of mtDNA, but two features of LHON pedigrees are not explicable solely on the basis of mitochondrial inheritance. There is a large excess of affected males, and not all males at risk develop the disease. These observations could be explained by the existence of an X-linked visual loss susceptibility gene. This hypothesis was supported by...

Topics

Base Sequence
Chromosome Mapping
DNA
DNA, Mitochondrial
England
Female
Genetic Linkage
Genetic Predisposition to Disease
Humans
Italy
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Oligodeoxyribonucleotides

Optic Atrophies, Hereditary

Pedigree

Polymerase Chain Reaction

Polymorphism, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 1415219
PMCID: PMC1682819

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1415219-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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