Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.

doi:10.1002/ajmg.1320420208

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Article

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.

American journal of medical genetics - 15 Jan 1992

Zhu D P, Economou E P, Antonarakis S E, Maumenee I H

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by bilateral acute or subacute loss of central vision, primarily in young males. A G----A single base mutation at 11778nt of the mitochondrial genome which eliminates a SfaNI restriction site [Wallace et al., 1988; Holt et al., 1989; Hotta et al., 1989; Singh et al., 1989; Vilkki et al., 1989; Yoneda et al., 1989; Stone et...

Topics

Adenine
Adolescent
Adult
Aged
Aged, 80 and over
Base Sequence
Blotting, Southern
DNA Mutational Analysis
DNA, Mitochondrial
Female
Follow-Up Studies
Guanine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Middle Aged

Molecular Sequence Data

Mutation

NADH Dehydrogenase

Source

Open in PubMed

Identifiers

PMID: 1346348
DOI: 10.1002/ajmg.1320420208

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1346348-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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