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Article

Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1992

Johns D R, Smith K H, Miller N R

Abstract excerpt

Leber's hereditary optic neuropathy is associated with three different point mutations of mitochondrial DNA that appear to be pathogenetic for the disease. These mutations affect nucleotide positions 3460, 11,778, and 15,257. We reviewed the clinical characteristics of 12 visually symptomatic patients from nine families with the 3460 mutation and compared them with previously published characteristics of...

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Identifiers

PMID: 1444915
DOI: 10.1001/archopht.1992.01080230077025

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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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Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation.Semantic proximity Read ↗

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.Semantic proximity Read ↗

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