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Article

A family with Leber's hereditary optic neuropathy with mitochondrial 11778/ND4 and 4216/ND1 mutations.

Korean journal of ophthalmology : KJO - 1 Jun 2000

Hwang J M

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is caused by a point mutation in the mitochondrial deoxynucleic acid (mtDNA) and accounts for 30% of bilateral optic atrophy of unknown etiology. The authors found a Korean family with mtDNA mutations in the nucleotide positions (np) 11778 and np 4216. This is the first report confirming a secondary mtDNA np 4216 mutation in Koreans, as well as the first report of a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10933019
DOI: 10.3341/kjo.2000.14.1.45

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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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