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Article

Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy.

American journal of ophthalmology - 1 Feb 1995

Mashima Y, Hiida Y, Saga M, Oguchi Y, Kudoh J, Shimizu N

Abstract excerpt

PURPOSE/METHODS: The most common pathogenic mitochondrial mutation at nucleotide 11778 in Leber's hereditary optic neuropathy is usually detected by the loss of an SfaNI restriction site. To evaluate a false-positive diagnostic error in this molecular genetic assay, we investigated SfaNI polymorphism in 120 patients with bilateral optic atrophy. RESULTS/CONCLUSIONS: The ratio of false-positive to true-positive...

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Source

Identifiers

PMID: 7832241
DOI: 10.1016/s0002-9394(14)73888-7

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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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Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy.PMID 7832241Read ↗

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[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics].Semantic proximity Read ↗

High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients.Semantic proximity Read ↗

Heteroplasmy in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

[Molecular genetic analysis for Leber's hereditary optic neuropathy (LHON)].Semantic proximity Read ↗

Mutation-specific PCR: a rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation.Semantic proximity Read ↗

[Analysis of mutations and heteroplasmy at mitochondrial DNA 11778 using non-RI single strand conformation polymorphisms in Leber's hereditary optic neuropathy].Semantic proximity Read ↗

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