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Article

Variable genotype of Leber's hereditary optic neuropathy patients.

American journal of ophthalmology - 15 Jun 1990

Lott M T, Voljavec A S, Wallace D C

Abstract excerpt

Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxyribonucleic acid (mtDNA). Each cell contains thousands of mitochondrial DNA molecules. We demonstrated that in certain isolated instances, the proband and close maternal lineage relatives can have mixtures of mutant and normal mitochondrial DNA molecules (heteroplasmy). The proportion of mutant mitochondrial DNA...

Topics

Blotting, Southern
Cell Line
DNA Mutational Analysis
DNA, Mitochondrial
Electrophoresis, Agar Gel
Female
Genotype
Hereditary Sensory and Motor Neuropathy
Humans
Male
Nucleic Acid Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Optic Atrophies, Hereditary

Pedigree

Polymerase Chain Reaction

Restriction Mapping

Source

Identifiers

PMID: 2346190
DOI: 10.1016/s0002-9394(14)72429-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2346190-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Variable genotype of Leber's hereditary optic neuropathy patients.PMID 2346190Read ↗

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