- A family with Leber's hereditary optic neuropathy with mitochondrial 11778/ND4 and 4216/ND1 mutations
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Hwang JM
- KMID: 754273
- Korean J Ophthalmol.
- 2000 Jun;14(1):45-48.
- doi: 10.3341/kjo.2000.14.1.45
Leber's hereditary optic neuropathy (LHON) is caused by a point mutation in the mitochondrial deoxynucleic acid (mtDNA) and accounts for 30+ACU- of bilateral optic atrophy of unknown etiology. The authors... -
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- Carbon monoxide poisoning as an epigenetic factor for Leber's hereditary optic neuropathy
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Hwang JM, Park HW
- KMID: 1735169
- Korean J Ophthalmol.
- 1996 Dec;10(2):122-123.
- doi: 10.3341/kjo.1996.10.2.122
A 45-year-old Korean woman visited our hospital complaining of poor vision after carbon monoxide (CO) poisoning. We have confirmed the presence of a point mutation at position 11778 in the... -
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- Hereditary Optic Atrophy, Neural Deafness, and Peripheral Neuropathy
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Lee GH, Na DL, Park SH
- KMID: 1686790
- J Korean Neurol Assoc.
- 1993 Sep;11(3):451-458.
The triad of bilateral optic atrophy, hearing deficit, peripheral neuropathy is knoun to be a rare disorder. The authors experienced eight patients in three generations of the same family with... -
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