| Optic Neuropathy Associated with Mitochondrial tRNA(Leu(UUR)) A->G(3243) Mutation. |
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Seong Joon Kim, Jeong Min Hwang, Hye Won Park, Seong Ho Park, Han Bo Lee |
1Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea.
2Department of Ophthalmology, Seoul City Boramae Hospital, Seoul, Korea.
3Department of Pediatrics, Seoul City Boramae Hospital, Seoul, Korea.
4Department of Neurology, Seoul City Boramae Hospital, Seoul, Korea. |
| Mitochondrial tRNALeu(UUR)A→G(3243) 돌연변이가 있는 환자에서 발견된 시신경병증 |
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김성준(Seong Joon Kim),황정민(Jeong Min Hwang),박혜원(Hye Won Park),박성호(Seong Ho Park),이한보(Han Bo Lee) |
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| Abstract |
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Mitochondrial tRNA(Leu(UUR)) A->G(3243) mutation accounts for 80% of all patients with MELAS(mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes), diabetes mellitus with deafness and progressive external ophthalmoplegia. Optic neuropathy has rarely been reported to be associated with the mutation. We found optic neuropathy in two patients with the mutation. To our knowledge, this is the first case report of optic neuropathy associated with the mutation in Korea. |
| Key Words:
Mitochondrial tRNA(Leu(UUR)) A->G(3243) mutation;Optic neuropathy |
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