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Volumn 111, Issue 11, 1993, Pages 1491-1494

Identical Twins Who Are Discordant for Leber's Hereditary Optic Neuropathy

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0027493447     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archopht.1993.01090110057023     Document Type: Article
Times cited : (49)

References (22)
  • 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
  • 3
    • 0025944560 scopus 로고
    • Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
    • 3. 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
  • 4
    • 0026337654 scopus 로고
    • Cytochrome b mutations in Leber hereditary optic neuropathy
    • 4. 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
  • 5
    • 0026531040 scopus 로고
    • Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    • 5. 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
  • 6
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • 6. Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1992;187:1551-1557.
    • (1992) Biochem Biophys Res Commun , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 7
    • 0025897119 scopus 로고
    • Leber hereditary optic neuropathy: involvement of the ND1 gene and evidence for an intragenic suppressor mutation
    • 7. Howell N, Kubacka I, Xu M, McCullough DA. Leber hereditary optic neuropathy: involvement of the ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet. 1991;48:935-942.
    • (1991) Am J Hum Genet , vol.48 , pp. 935-942
    • Howell, N.1    Kubacka, I.2    Xu, M.3    McCullough, D.A.4
  • 8
    • 0026036025 scopus 로고
    • Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • 8. 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
  • 9
    • 0026746739 scopus 로고
    • A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual genetic etiology
    • 9. Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual genetic etiology. Am J Hum Genet. 1992;51:1218-1228.
    • (1992) Am J Hum Genet , vol.51 , pp. 1218-1228
    • Mackey, D.1    Howell, N.2
  • 10
    • 0026702249 scopus 로고
    • Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases
    • 2791-2799.
    • 10. Brown MD, Voljavec AS, Lott MT, Macdonald I, Wallace DC. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J. 1992:6:2791-2799.
    • (1992) FASEB J , pp. 6
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3    Macdonald, I.4    Wallace, D.C.5
  • 11
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • 11. Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem. 1992;61:1175-1212.
    • (1992) Annu Rev Biochem , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 12
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
    • 12. 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
  • 13
    • 0026495869 scopus 로고
    • Leber's hereditary optic neuropathy: clinical manifestations of the 3460 mutation
    • 13. Johns DR, Smith KH, Miller NR. Leber's hereditary optic neuropathy: clinical manifestations of the 3460 mutation. Arch Ophthalmol. 1992;110:1577-1581.
    • (1992) Arch Ophthalmol , vol.110 , pp. 1577-1581
    • Johns, D.R.1    Smith, K.H.2    Miller, N.R.3
  • 14
    • 0027195652 scopus 로고
    • Leber's hereditary optic neuropathy: clinical manifestations of the 15257 mutation
    • 14. Johns DR, Smith KS, Savino PJ, Miller NR. Leber's hereditary optic neuropathy: clinical manifestations of the 15257 mutation. Ophthalmology. 1993;100:981-986.
    • (1993) Ophthalmology , vol.100 , pp. 981-986
    • Johns, D.R.1    Smith, K.S.2    Savino, P.J.3    Miller, N.R.4
  • 15
    • 0027502505 scopus 로고
    • Leber's hereditary optic neuropathy: clinical manifestations of the 14484 mutation
    • 15. Johns DR, Heher KL, Miller NR, Smith KH. Leber's hereditary optic neuropathy: clinical manifestations of the 14484 mutation. Arch Ophthalmol. 1993;111:495-498.
    • (1993) Arch Ophthalmol , vol.111 , pp. 495-498
    • Johns, D.R.1    Heher, K.L.2    Miller, N.R.3    Smith, K.H.4
  • 16
    • 0024990480 scopus 로고
    • Improved molecular genetic diagnosis of Leber's hereditary optic neuropathy
    • 16. Johns DR. Improved molecular genetic diagnosis of Leber's hereditary optic neuropathy. N Engl J Med. 1990;323:1488-1489.
    • (1990) N Engl J Med , vol.323 , pp. 1488-1489
    • Johns, D.R.1
  • 17
    • 0025080587 scopus 로고
    • Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy
    • 17. Stone EM, Coppinger JM, Kardon RH, Donelson J. Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy. Arch Ophthalmol. 1990;108:1417-1420.
    • (1990) Arch Ophthalmol , vol.108 , pp. 1417-1420
    • Stone, E.M.1    Coppinger, J.M.2    Kardon, R.H.3    Donelson, J.4
  • 18
    • 0025820109 scopus 로고
    • X chromosome-linked and mitochondrial gene control of Leber's hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation
    • 18. Bu X, Rotter JI. X chromosome-linked and mitochondrial gene control of Leber's hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci U S A. 1991;88:8198-8202.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 8198-8202
    • Bu, X.1    Rotter, J.I.2
  • 19
    • 0026034238 scopus 로고
    • Optic atrophy in Leber's hereditary optic neuropathy is probably determined by an X-chromosomal gene closely linked to DXS7
    • 19. Vilkki J, Ott J, Savontaus M-L, Aula P, Nikoskelainen EK. Optic atrophy in Leber's hereditary optic neuropathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet. 1991;48:486-491.
    • (1991) Am J Hum Genet , vol.48 , pp. 486-491
    • Vilkki, J.1    Ott, J.2    Savontaus, M-L.3    Aula, P.4    Nikoskelainen, E.K.5
  • 20
    • 0024380419 scopus 로고
    • Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis
    • 20. Chen J-D, Cox I, Denton MJ. Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. Hum Genet. 1989;82:203-207.
    • (1989) Hum Genet , vol.82 , pp. 203-207
    • Chen, J-D.1    Cox, I.2    Denton, M.J.3
  • 21
    • 0023185081 scopus 로고
    • Leber's hereditary optic neuroretinopathy, a maternally inherited disease: a geneologic study in four pedigrees
    • 21. Nikoskelainen EK, 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.K.1    Savontaus, M-L.2    Wanne, O.P.3    Katila, M.J.4    Nummelin, K.U.5
  • 22
    • 0027520465 scopus 로고
    • Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
    • 22. Cullom ME, Heher KL, Miller NR, Savino PJ, Johns DR. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol. 1993;111:1482-1485.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1482-1485
    • Cullom, M.E.1    Heher, K.L.2    Miller, N.R.3    Savino, P.J.4    Johns, D.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.