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Article

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

Biochemical and biophysical research communications - 30 Sept 1992

Johns D R, Neufeld M J, Park R D

Abstract excerpt

A mitochondrial DNA mutation at nucleotide position 14,484 was found in 14 independent probands with Leber hereditary optic neuropathy and in 0/250 controls. The 14,484 mutation, which changes methionine-64 to valine in a conserved domain of the ND-6 gene, occurred in association with a mitochondrial DNA haplotype that includes the 13,708 secondary mutation in 10/14 probands. An associated mutation at nucleotide...

Topics

Base Sequence
Biological Evolution
DNA, Mitochondrial
Haplotypes
Humans
Molecular Sequence Data
Mutation
NADH Dehydrogenase
Oligodeoxyribonucleotides
Optic Atrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1417830
DOI: 10.1016/0006-291x(92)90479-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1417830-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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