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Article

A mutation of mitochondrial DNA in Japanese families with Leber's hereditary optic neuropathy.

Jinrui idengaku zasshi. The Japanese journal of human genetics - 1 Jun 1991

Fujiki K, Hotta Y, Hayakawa M, Saito K, Ara F, Ueda S, Goto T, Ishida M, Yanashima K, Shiono T

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease characterized by optic nerve degeneration associated with severe bilateral visual loss in young men and occasionally in women. A mitochondrial DNA (mtDNA) replacement mutation in LHON patient, G to A transition at nucleotide position (nt) 11778 converting the 340th arginine to histidine in the NADH dehydrogenase subunit 4, was detected...

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Source

Identifiers

PMID: 1681125
DOI: 10.1007/BF01876576

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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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