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Article

Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation.

Ophthalmology - 1 Jul 1993

Johns D R, Smith K H, Savino P J, Miller N R

Abstract excerpt

BACKGROUND: Leber's hereditary optic neuropathy is associated with four known pathogenetic mutations of mitochondrial DNA (mtDNA) at nucleotide positions (np) 11778, 3460, 15257, and 14484. METHODS: The authors collected clinical data from 12 visually symptomatic patients from seven different ped...

Topics

Adolescent
Adult
Aged
Apoproteins
Child
Cytochrome b Group
Cytochromes b
DNA, Mitochondrial
Female
Genotype
Humans
Male
Middle Aged
NADH Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nervous System Diseases

Optic Atrophies, Hereditary

Pedigree

Point Mutation

Source

Identifiers

PMID: 8321540
DOI: 10.1016/s0161-6420(93)31527-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8321540-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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