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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...

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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