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  • Title: A family with Leber's hereditary optic neuropathy with mitochondrial 11778/ND4 and 4216/ND1 mutations.
    Author: Hwang JM.
    Journal: Korean J Ophthalmol; 2000 Jun; 14(1):45-8. PubMed ID: 10933019.
    Abstract:
    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 Korean family harboring both primary and the secondary mutations that the authors are aware of.
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