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Article

Genetic analysis of Japanese pedigrees with Leber's hereditary optic neuropathy.

The Kobe journal of medical sciences - 1 Dec 1993

Nakamura M

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease, characterized by bilateral optic atrophy mainly in young men. The strict maternal inheritance pattern of LHON can be explained by specific primary mitochondrial (mt) DNA mutations. However, intrafamilial phenotypic variation requires additional pathogenetic factors. Homo- or heteroplasmy of the primary mtDNA mutation, synergistic or...

Topics

DNA, Mitochondrial
Female
Genetic Linkage
Humans
Japan
Male
Mutation
Optic Atrophies, Hereditary
Pedigree
X Chromosome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8182918

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8182918-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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