메뉴 건너뛰기




Volumn 110, Issue 11, 1992, Pages 1577-1581

Leber's Hereditary Optic Neuropathy: Clinical Manifestations of the 3460 Mutation

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL; MITOCHONDRIAL DNA;

EID: 0026495869     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archopht.1992.01080230077025     Document Type: Article
Times cited : (153)

References (23)
  • 1
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • 1. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988;242:1427-1430.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 2
    • 0024452491 scopus 로고
    • Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism
    • 2. Vilkki J, Savontaus ML, Nikoskelainen EK. Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism. Am J Hum Genet. 1989;45:206-211.
    • (1989) Am J Hum Genet , vol.45 , pp. 206-211
    • Vilkki, J.1    Savontaus, M.L.2    Nikoskelainen, E.K.3
  • 3
    • 0024306492 scopus 로고
    • Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy
    • 3. Holt IJ, Miller DH, Harding AE. Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet. 1989;26:739-743.
    • (1989) J Med Genet , vol.26 , pp. 739-743
    • Holt, I.J.1    Miller, D.H.2    Harding, A.E.3
  • 4
    • 0025083138 scopus 로고
    • Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy
    • 4. Bolhuis PA, Bleeker-Wagemakers EM, Ponne NJ, et al. Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1990;170:994-997.
    • (1990) Biochem Biophys Res Commun , vol.170 , pp. 994-997
    • Bolhuis, P.A.1    Bleeker-Wagemakers, E.M.2    Ponne, N.J.3
  • 5
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
    • 5. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991;111:750-762.
    • (1991) Am J Ophthalmol , vol.111 , pp. 750-762
    • Newman, N.J.1    Lott, M.T.2    Wallace, D.C.3
  • 7
    • 0025944560 scopus 로고
    • Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
    • 7. Howell N, Bindoff LA, McCullough DA, et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet. 1991;49:939-950.
    • (1991) Am J Hum Genet , vol.49 , pp. 939-950
    • Howell, N.1    Bindoff, L.A.2    McCullough, D.A.3
  • 8
    • 0026612617 scopus 로고
    • Mitochondrial ND1 mutation in Leber hereditary optic neuropathy
    • 8. Johns DR. Mitochondrial ND1 mutation in Leber hereditary optic neuropathy. Am J Hum Genet. 1992;50:872-874.
    • (1992) Am J Hum Genet , vol.50 , pp. 872-874
    • Johns, D.R.1
  • 9
    • 0026337654 scopus 로고
    • Cytochrome b mutations in Leber hereditary optic neuropathy
    • 9. Johns DR, Neufeld MJ. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1991;181:1358-1364.
    • (1991) Biochem Biophys Res Commun , vol.181 , pp. 1358-1364
    • Johns, D.R.1    Neufeld, M.J.2
  • 10
    • 0026531040 scopus 로고
    • Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    • 10. Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992;130:163-173.
    • (1992) Genetics , vol.130 , pp. 163-173
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3    Torroni, A.4    Yang, C.C.5    Wallace, D.C.6
  • 11
    • 0026036025 scopus 로고
    • Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • 11. Johns DR, Berman J. Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1991;174:1324-1330.
    • (1991) Biochem Biophys Res Commun , vol.174 , pp. 1324-1330
    • Johns, D.R.1    Berman, J.2
  • 12
    • 0013887061 scopus 로고
    • Further clinical and pathological observations on Leber's optic atrophy
    • 12. Adams JH, Blackwood W, Wilson J. Further clinical and pathological observations on Leber's optic atrophy. Brain. 1966;89:15-26.
    • (1966) Brain , vol.89 , pp. 15-26
    • Adams, J.H.1    Blackwood, W.2    Wilson, J.3
  • 13
    • 0018696862 scopus 로고
    • Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family
    • 13. Carroll WM, Mastaglia FL. Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family. Brain. 1979;102:559-580.
    • (1979) Brain , vol.102 , pp. 559-580
    • Carroll, W.M.1    Mastaglia, F.L.2
  • 14
    • 0019156744 scopus 로고
    • Leber's optic neuropathy: clinical and visual evoked response studies in asymptomatic and symptomatic members of a 4-generation family
    • 14. Livingstone IR, Mastaglia FL, Howe JW, Aherne GES. Leber's optic neuropathy: clinical and visual evoked response studies in asymptomatic and symptomatic members of a 4-generation family. Br J Ophthalmol. 1980;64:751-757.
    • (1980) Br J Ophthalmol , vol.64 , pp. 751-757
    • Livingstone, I.R.1    Mastaglia, F.L.2    Howe, J.W.3    Aherne, G.E.S.4
  • 16
    • 0019989454 scopus 로고
    • Ophthalmoscopic findings in Leber's hereditary optic neuroretinopathy, I: fundus findings in asymptomatic family members
    • 16. Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuroretinopathy, I: fundus findings in asymptomatic family members. Arch Ophthalmol. 1982;100:1597-1602.
    • (1982) Arch Ophthalmol , vol.100 , pp. 1597-1602
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3
  • 17
    • 0020602931 scopus 로고
    • Ophthalmoscopic findings in Leber's hereditary optic neuroretinopathy, I: the fundus findings in the affected family members
    • 17. Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuroretinopathy, I: the fundus findings in the affected family members. Arch Ophthalmol. 1983;101:1059-1068.
    • (1983) Arch Ophthalmol , vol.101 , pp. 1059-1068
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3
  • 18
    • 0021255222 scopus 로고
    • Fundus findings in Leber's hereditary optic neuroretinopathy, III: fluorescein angiographic studies
    • 18. Nikoskelainen E, Hoyt WF, Nummelin K, Schatz H. Fundus findings in Leber's hereditary optic neuroretinopathy, III: fluorescein angiographic studies. Arch Ophthalmol. 1984;102:981-989.
    • (1984) Arch Ophthalmol , vol.102 , pp. 981-989
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3    Schatz, H.4
  • 19
    • 0015815660 scopus 로고
    • Ocular fundus in acute Leber optic neuropathy
    • 19. Smith JL, Hoyt WF, Susac JO. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol. 1973;90:349-354.
    • (1973) Arch Ophthalmol , vol.90 , pp. 349-354
    • Smith, J.L.1    Hoyt, W.F.2    Susac, J.O.3
  • 20
    • 0023185081 scopus 로고
    • Leber's hereditary optic neuroretinopathy, a maternally inherited disease: a geneologic study in four pedigrees
    • 20. Nikoskelainen E, Savontaus M-L, Wanne OP, Katila MJ, Nummelin KU. Leber's hereditary optic neuroretinopathy, a maternally inherited disease: a geneologic study in four pedigrees. Arch Ophthalmol. 1987;105:665-671.
    • (1987) Arch Ophthalmol , vol.105 , pp. 665-671
    • Nikoskelainen, E.1    Savontaus, M-L.2    Wanne, O.P.3    Katila, M.J.4    Nummelin, K.U.5
  • 22
    • 0021913432 scopus 로고
    • Preexcitation syndrome and Leber's hereditary optic neuroretinopathy
    • 22. Nikoskelainen E, Wanne O, Dahl M. Preexcitation syndrome and Leber's hereditary optic neuroretinopathy. Lancet. 1985;1:969.
    • (1985) Lancet , vol.1 , pp. 969
    • Nikoskelainen, E.1    Wanne, O.2    Dahl, M.3
  • 23
    • 0026411122 scopus 로고
    • The clinical profile of optic neuritis: experience of the optic neuritis treatment trial
    • 23. Optic Neuritis Study Group. The clinical profile of optic neuritis: experience of the optic neuritis treatment trial. Arch Ophthalmol. 1991;109:1673-1678.
    • (1991) Arch Ophthalmol , vol.109 , pp. 1673-1678


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.