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Article

OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484.

Japanese journal of ophthalmology - 1 Jan 2000

Yamada Tetsuya, Hayasaka Seiji, Matsumoto Masayuki, Budu, Esa Tenri, Hayasaka Yoriko, Endo Machi, Nagaki Yasunori, Fujiki Keiko, Murakami Akira, Kanai Atsushi

Abstract excerpt

PURPOSE: To report mutations in the OPA1 gene in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484. METHODS: Twelve unrelated patients with bilateral optic atrophy and 100 healthy controls were examined. Each exon of the OPA1 gene was amplified by polymerase chain reaction (PCR). All PCR products were sequenced. RESULTS: Of the 12 patients, 2...

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Identifiers

PMID: 12842213
DOI: 10.1016/s0021-5155(03)00056-x

Genes

OPA1

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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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