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Leber’s ‘Plus’ in a Korean Patient with 14484/ND6 Mutation
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참고문헌 (9)
- Man PY, "Leber hereditary optic neuropathy", J Med Genet, 39, pp.162~169 (2002)
- Johns DR, "Leber’s hereditary optic neuropathy. Clinical manifestations of the 14484 mutation", Arch Ophthalmol, 111, pp.495~498 (1993)
- Hwang JM, "Visual prognosis of Leber’s hereditary optic neuropathy with 14484", ND6 mutation in Koreans, 2000, pp.24, 421~426
- Johns DR, "Leber’s hereditary optic neuropathy. Clinical manifestations of the 3460 mutation", Arch Ophthalmol, 110, pp.1577~1581 (1992)
- Charlmers RM, "A case-control study of Leber’s hereditary optic neuropathy", Brain, 119(Pt 5), pp.1481~1486 (1996)
- Johns DR, "An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy", Biochem Biophys Res Commun, 187, pp.1551~1557 (1992)
- Nikoskelainen EK, "Leber’s “plus”: neurological abnormalities in patients with Leber’s hereditary optic neuropathy", J Neurol Neurosurg Psychiatry, 59, pp.160~164 (1995)
- Wallace DC, "A new manifestation of Leber’s disease and a new explanation for the agency responsible for its unusual pattern of inheritance", Brain, 93, pp.121~132 (1970)
- Choi EJ, "Leber’s hereditary optic neuropathy with dystonia caused by mtDNA 11778 mutation", J Korean Neurol Assoc, 18, pp.244~248 (2000)
관련 논문AI추천
Clinical Features of Leber Hereditary Optic Neuropathy Carrying a Rare m.13051G>A Mitochondrial Mutation: A Case ReportHee Kyung Yang, Hyuna Kim, Jeong-Min Hwang, Moon-Woo Seong대한안과학회 · Korean Journal of Ophthalmology2025 · 제39권 제6호다양한 간질발작을 나타낸 사립체 DNA 11778 돌연변이로 인한 Leber 유전성 시신경병증강성진, 김광수, 김민정, 김종국, 문지수, 유봉구, 이재현, 하상욱대한신경과학회 · 대한신경과학회지2006 · 제24권 제5호미토콘드리아 DNA T14484C 점돌연변이를 가진 한국인 레버유전시신경병증의 시기능 예후김미정, 박성섭, 황정민대한안과학회 · 대한안과학회지2012 · 제53권 제1호사립체 DNA의 11778 점돌연변이가 확인된 Leber씨 유전성 시신경병증 1례이준, 박미영, 박승권, 이세진, 이승엽, 정윤석, 하정상영남대학교 의과대학 · Journal of Yeungnam Medical Science1999 · 제16권 제1호Leber’s Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNAEmi Fusayasu, Kazuhiro Nakaso, Keiko Imamura, Kenichi Yasui, Kenji Nakashima, Koji Doi, Yoshiki Adachi대한신경과학회 · Journal of Clinical Neurology2012 · 제8권 제3호Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient김용훈, 박성섭, 성문우, 우세준, 주광식대한안과학회 · Korean Journal of Ophthalmology2020 · 제34권 제1호
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