Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease.

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Article

Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease.

Investigative ophthalmology & visual science - 1 Mar 1993

Nakamura M, Fujiwara Y, Yamamoto M

Abstract excerpt

PURPOSE: To preliminarily examine whether mitochondrial heteroplasmy or synergism of multiple mitochondrial (mt) DNA mutations are related to the symptoms manifested in Japanese pedigrees with Leber's hereditary optic neuropathy (LHON), 90 percent of which have an mtDNA mutation at position 11778...

Topics

Adolescent
Adult
Aged
Base Sequence
Blotting, Southern
DNA, Mitochondrial
Female
Genotype
Humans
Japan
Male
Middle Aged
Molecular Sequence Data
Mutation
NADH Dehydrogenase
Oligonucleotide Probes
Optic Atrophies, Hereditary
Pedigree

Source

Open in PubMed

Identifiers

PMID: 8449667

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8449667-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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