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Volumn 16, Issue 1, 2003, Pages 35-43

Neuro-ophthalmology of mitochondrial diseases

Author keywords

And stroke like episodes; Chronic progressive external ophthalmoplegia; Cortical blindness; Homonymous hemianopia; Lactic acidosis; Leber's hereditary optic neuropathy; Mitochondrial disease; Mitochondrial encephalomyopathy; Ophthalmoplegia; Optic neuropathy

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXTERNAL OPHTHALMOPLEGIA; EYE DISEASE; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; MITOCHONDRION; OPTIC NERVE DISEASE; PATHOPHYSIOLOGY; PTOSIS; RETINOPATHY; REVIEW; VISUAL IMPAIRMENT; VISUAL SYSTEM;

EID: 0037321655     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200302000-00005     Document Type: Review
Times cited : (41)

References (70)
  • 1
    • 0033525773 scopus 로고    scopus 로고
    • Mitochondrial diseases in man and mouse
    • Wallace DW. Mitochondrial diseases in man and mouse. Science 1999; 283:1482-1488.
    • (1999) Science , vol.283 , pp. 1482-1488
    • Wallace, D.W.1
  • 2
    • 0035782926 scopus 로고    scopus 로고
    • Lessons from mitochondrial DNA mutations
    • DiMauro S. Lessons from mitochondrial DNA mutations. Semin Cell Dev Biol 2001; 9:397-405. • A useful update on mitochondrial genetics.
    • (2001) Semin Cell Dev Biol , vol.9 , pp. 397-405
    • DiMauro, S.1
  • 3
    • 0035782927 scopus 로고    scopus 로고
    • The expanding spectrum of nuclear gene mutations in mitochondrial disorders
    • Zeviani M. The expanding spectrum of nuclear gene mutations in mitochondrial disorders. Semin Cell Dev Biol 2001; 12:407-416.
    • (2001) Semin Cell Dev Biol , vol.12 , pp. 407-416
    • Zeviani, M.1
  • 4
    • 0034700807 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain disorders. I: Mitochondrial DNA defects
    • Leonard JV, Schapira AHV. Mitochondrial respiratory chain disorders. I: mitochondrial DNA defects. Lancet 2000; 355:299-304.
    • (2000) Lancet , vol.355 , pp. 299-304
    • Leonard, J.V.1    Schapira, A.H.V.2
  • 5
    • 0034728096 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain disorders. II: Neurodegenerative disorders and nuclear gene defects
    • Leonard JV, Schapira AHV. Mitochondrial respiratory chain disorders. II: neurodegenerative disorders and nuclear gene defects. Lancet 2000; 355:389-394.
    • (2000) Lancet , vol.355 , pp. 389-394
    • Leonard, J.V.1    Schapira, A.H.V.2
  • 6
    • 0036201070 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy
    • Man PYW, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet 2002; 39:162-169. • An excellent review on LHON.
    • (2002) J Med Genet , vol.39 , pp. 162-169
    • Man, P.Y.W.1    Turnbull, D.M.2    Chinnery, P.F.3
  • 7
    • 0033137153 scopus 로고    scopus 로고
    • The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy
    • Brown MD. The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy. J Neurol Sci 1999; 165:1-5.
    • (1999) J Neurol Sci , vol.165 , pp. 1-5
    • Brown, M.D.1
  • 8
    • 0032854412 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy (LHON): A mitochondrial disease with unresolved complexities
    • Went LN. Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities. Cytogenet Cell Genet 1999; 86:153-156.
    • (1999) Cytogenet Cell Genet , vol.86 , pp. 153-156
    • Went, L.N.1
  • 10
    • 0037158599 scopus 로고    scopus 로고
    • Paternal evidence of mitochondrial DNA
    • Schwartz M, Vissing J. Paternal evidence of mitochondrial DNA. N Engl J Med 2002; 347:576-580. •• This is a case report of a young man with a myopathy caused by a defect in mtDNA. Complete sequencing of mtDNA from the patient and his healthy parents allowed the identification of the mitochondrial genotype at multiple polymorphic sites and thus the determination of the mitochondrial haplotype. The analysis of DNA extracted from the patient's lymphocytes confirmed the expected transmission of mtDNA from his mother. Surprisingly, however, the mitochondrial haplotype in the patient's muscle matched that of his father, a finding that demonstrates paternal transmission of mtDNA in a human family.
    • (2002) N Engl J Med , vol.347 , pp. 576-580
    • Schwartz, M.1    Vissing, J.2
  • 11
    • 0037158613 scopus 로고    scopus 로고
    • Another surprise from the mitochondrial genome
    • Williams RS. Another surprise from the mitochondrial genome. N Engl J Med 2002; 347:609-612.
    • (2002) N Engl J Med , vol.347 , pp. 609-612
    • Williams, R.S.1
  • 12
    • 0034780593 scopus 로고    scopus 로고
    • Neuro-ophthalmology of mitochondrial diseases
    • Biousse V, Newman NJ. Neuro-ophthalmology of mitochondrial diseases. Semin Neurol 2001; 21:275-291.
    • (2001) Semin Neurol , vol.21 , pp. 275-291
    • Biousse, V.1    Newman, N.J.2
  • 13
    • 0035404936 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Clinical and molecular genetic findings
    • Huopenen K. Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics 2001; 3:119-125.
    • (2001) Neurogenetics , vol.3 , pp. 119-125
    • Huopenen, K.1
  • 14
    • 0032868149 scopus 로고    scopus 로고
    • Comparing pupil function with visual function in patients with Leber's herediatry optic neuropathy
    • Bremner FD, Shallo-Hoffmann J, Riordan-Ava P, Smith SE. Comparing pupil function with visual function in patients with Leber's herediatry optic neuropathy. Invest Ophthalmol Vis Sci 1999; 40:2528-2534.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 2528-2534
    • Bremner, F.D.1    Shallo-Hoffmann, J.2    Riordan-Ava, P.3    Smith, S.E.4
  • 15
    • 2542509663 scopus 로고    scopus 로고
    • A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation
    • Bhatti MT, Newman NJ. A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation. J Neuro-ophthalmol 1999; 19:28-33.
    • (1999) J Neuro-Ophthalmol , vol.19 , pp. 28-33
    • Bhatti, M.T.1    Newman, N.J.2
  • 16
    • 84975473119 scopus 로고    scopus 로고
    • Optic nerve enhancement on orbital magnetic resonance imaging in Leber's hereditary optic neuropathy
    • Vaphiades MS, Newman NJ. Optic nerve enhancement on orbital magnetic resonance imaging in Leber's hereditary optic neuropathy. J Neuro-ophthalmol 1999; 19:238-239.
    • (1999) J Neuro-Ophthalmol , vol.19 , pp. 238-239
    • Vaphiades, M.S.1    Newman, N.J.2
  • 17
    • 0029153644 scopus 로고
    • Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation
    • Barbiroli B, Montagna P, Cortelli P, et al. Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation. Neurology 1995; 45:1364-1369.
    • (1995) Neurology , vol.45 , pp. 1364-1369
    • Barbiroli, B.1    Montagna, P.2    Cortelli, P.3
  • 18
    • 0035056945 scopus 로고    scopus 로고
    • Magnetic resonance imaging, magnetization transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain and cervical cord damage in Leber's hereditary optic neuropathy
    • Inglese M, Rovaris M, Bianchi S, et al. Magnetic resonance imaging, magnetization transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain and cervical cord damage in Leber's hereditary optic neuropathy. J Neuro J Neurosurg Psychiatry 2001; 70:444-449.
    • (2001) J Neuro J Neurosurg Psychiatry , vol.70 , pp. 444-449
    • Inglese, M.1    Rovaris, M.2    Bianchi, S.3
  • 19
    • 0036259160 scopus 로고    scopus 로고
    • Phosphorous MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy
    • Lodi R, Carelli V, Cortelli P, et al. Phosphorous MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2002; 72:805-807.
    • (2002) J Neurol Neurosurg Psychiatry , vol.72 , pp. 805-807
    • Lodi, R.1    Carelli, V.2    Cortelli, P.3
  • 20
    • 0036895724 scopus 로고    scopus 로고
    • From genotype to phenotype in Leber's hereditary optic neuropathy: Still more questions than answers
    • Newman NJ. From genotype to phenotype in Leber's hereditary optic neuropathy: still more questions than answers. J Neuro-ophthalmol 2002; 22:257-261.
    • (2002) J Neuro-Ophthalmol , vol.22 , pp. 257-261
    • Newman, N.J.1
  • 21
    • 0036249503 scopus 로고    scopus 로고
    • Genetic counseling in Leber's hereditary optic neuropathy (LHON)
    • Huoponen K, Puomilla A, Savontaus ML, et al. Genetic counseling in Leber's hereditary optic neuropathy (LHON). Acta Ophthalmol Scand 2002; 80:38-43. • The authors describe a family to illustrate the difficulty of counselling patients with LHON.
    • (2002) Acta Ophthalmol Scand , vol.80 , pp. 38-43
    • Huoponen, K.1    Puomilla, A.2    Savontaus, M.L.3
  • 22
    • 0036229268 scopus 로고    scopus 로고
    • Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis
    • Kim JY, Hwang J-M, Park SS. Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis. Ann Neurol 2002; 51:630-634.
    • (2002) Ann Neurol , vol.51 , pp. 630-634
    • Kim, J.Y.1    Hwang, J.-M.2    Park, S.S.3
  • 23
    • 0036487995 scopus 로고    scopus 로고
    • The role of mtDNA background in disease expression: A new primary mutation associated with western Eurasian haplogroup
    • Brown MD, Starikovskaya E, Derbeneva O, et al. The role of mtDNA background in disease expression: a new primary mutation associated with western Eurasian haplogroup. J. Hum Genet 2002; 110:130-138.
    • (2002) J. Hum Genet , vol.110 , pp. 130-138
    • Brown, M.D.1    Starikovskaya, E.2    Derbeneva, O.3
  • 24
    • 0036260961 scopus 로고    scopus 로고
    • Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy
    • Valentino ML, Avoni P, Barboni P, et al. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. Ann Neurol 2002; 51:774-778.
    • (2002) Ann Neurol , vol.51 , pp. 774-778
    • Valentino, M.L.1    Avoni, P.2    Barboni, P.3
  • 25
    • 0034904756 scopus 로고    scopus 로고
    • Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families
    • Brown MD, Zhadanov S, Allen JC, et al. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. Hum Genet 2001; 109:33-39.
    • (2001) Hum Genet , vol.109 , pp. 33-39
    • Brown, M.D.1    Zhadanov, S.2    Allen, J.C.3
  • 26
    • 0035182136 scopus 로고    scopus 로고
    • The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
    • Chinnery PF, Brown DT, Andrews RM, et al. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 2001; 124:209-218. • The authors describe two LHON pedigrees harboring the same novel point mutation within the mtDNA ND6 gene (A14495G). This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations. The authors suggest that the mtDNA ND6 gene should be sequenced in patients with LHON who do not harbor one of the three common primary LHON mutations.
    • (2001) Brain , vol.124 , pp. 209-218
    • Chinnery, P.F.1    Brown, D.T.2    Andrews, R.M.3
  • 27
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial mutation
    • Riordan-Eva P, Sanders MD, Govan GC, et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial mutation. Brain 1995; 118:319-337.
    • (1995) Brain , vol.118 , pp. 319-337
    • Riordan-Eva, P.1    Sanders, M.D.2    Govan, G.C.3
  • 28
    • 0034018014 scopus 로고    scopus 로고
    • Variable pattern of visual recovery of Leber's hereditary optic neuropathy
    • Nakamura M, Yamamoto M. Variable pattern of visual recovery of Leber's hereditary optic neuropathy. Br J Ophthalmol 2000; 84:534-535.
    • (2000) Br J Ophthalmol , vol.84 , pp. 534-535
    • Nakamura, M.1    Yamamoto, M.2
  • 29
    • 0035931511 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
    • Chinnery PF, Andrews RM, Turnbull DM, Howell N. Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am J Med Genet 2001; 98:235-243.
    • (2001) Am J Med Genet , vol.98 , pp. 235-243
    • Chinnery, P.F.1    Andrews, R.M.2    Turnbull, D.M.3    Howell, N.4
  • 30
    • 0035892808 scopus 로고    scopus 로고
    • Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations
    • Brown MD, Allen JC, Van Stavern GP, et al. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet 2001; 104:331-338.
    • (2001) Am J Med Genet , vol.104 , pp. 331-338
    • Brown, M.D.1    Allen, J.C.2    Van Stavern, G.P.3
  • 31
    • 0036897159 scopus 로고    scopus 로고
    • Lightening striking twice: LHON families with two pathogenic mtDNA mutations
    • Howell N, Mackey DA, Arnold A, et al. Lightening striking twice: LHON families with two pathogenic mtDNA mutations. J Neuro-ophthalmol 2002; 22:262-269.
    • (2002) J Neuro-Ophthalmol , vol.22 , pp. 262-269
    • Howell, N.1    Mackey, D.A.2    Arnold, A.3
  • 32
    • 0032927387 scopus 로고    scopus 로고
    • Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy
    • Tsao K, Aitken PA, Johns DR. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy. Br J Ophthalmol 1999; 83:577-581.
    • (1999) Br J Ophthalmol , vol.83 , pp. 577-581
    • Tsao, K.1    Aitken, P.A.2    Johns, D.R.3
  • 33
    • 0034536967 scopus 로고    scopus 로고
    • A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy
    • Kerrison JB, Miller NR, Hsu FC, et al. A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am J Ophthalmol 2000; 130:803-812.
    • (2000) Am J Ophthalmol , vol.130 , pp. 803-812
    • Kerrison, J.B.1    Miller, N.R.2    Hsu, F.C.3
  • 34
    • 0035782650 scopus 로고    scopus 로고
    • Reactive oxygen species and mitochondrial diseases
    • Kirkinezos IG, Moraes CT. Reactive oxygen species and mitochondrial diseases. Cell Dev Biol 2001; 12:449-457.
    • (2001) Cell Dev Biol , vol.12 , pp. 449-457
    • Kirkinezos, I.G.1    Moraes, C.T.2
  • 35
    • 0032078333 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Respirator chain dysfunction and degeneration of the optic nerve
    • Howell N. Leber hereditary optic neuropathy: respirator chain dysfunction and degeneration of the optic nerve. Vis Res 1998; 38:1495-1504.
    • (1998) Vis Res , vol.38 , pp. 1495-1504
    • Howell, N.1
  • 36
    • 0036275652 scopus 로고    scopus 로고
    • The distribution of mitochondrial activity in relation to optic nerve structure
    • Bristow EA, Griffiths PG, Andrews RM, et al. The distribution of mitochondrial activity in relation to optic nerve structure. Arch Ophthalmol 2002; 120:791-796.
    • (2002) Arch Ophthalmol , vol.120 , pp. 791-796
    • Bristow, E.A.1    Griffiths, P.G.2    Andrews, R.M.3
  • 37
    • 0036369531 scopus 로고    scopus 로고
    • OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease
    • Delettre C, Lenaers G, Pelloquin L, et al. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 2002; 75:97-107. •• Dominant optic atrophy (also called optic atrophy type 1 or Kjer-type optic atrophy) is the most common form of hereditary optic atrophy. This article summarizes recent findings linking this autosomal dominant optic neuropathy to mitochondrial diseases. Indeed, mutations in the OPA1 gene encode a dynamin-related mitochondrial protein.
    • (2002) Mol Genet Metab , vol.75 , pp. 97-107
    • Delettre, C.1    Lenaers, G.2    Pelloquin, L.3
  • 38
    • 4243600660 scopus 로고    scopus 로고
    • Ribozymes against mitochondrial genes induce optic nerve degeneration in the mouse: An animal model for Leber hereditary optic neuropathy
    • Qi X, Lewin A, Guy J. Ribozymes against mitochondrial genes induce optic nerve degeneration in the mouse: an animal model for Leber hereditary optic neuropathy [Abstract]. Neurology 2002; 58 (Suppl. 3):A507.
    • (2002) Neurology , vol.58 , Issue.SUPPL. 3
    • Qi, X.1    Lewin, A.2    Guy, J.3
  • 40
    • 0034939187 scopus 로고    scopus 로고
    • What is Keams-Sayre syndrome after all?
    • Ashizawa T. What is Keams-Sayre syndrome after all ? Arch Neurol 2001; 58:1053-1054.
    • (2001) Arch Neurol , vol.58 , pp. 1053-1054
    • Ashizawa, T.1
  • 41
    • 0033435127 scopus 로고    scopus 로고
    • MRI of the brain in the Kearns-Sayre syndrome: Report of four cases and a review
    • Chu BC, Terae S, Takayashi C, et al. MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology 1999; 41:759-764.
    • (1999) Neuroradiology , vol.41 , pp. 759-764
    • Chu, B.C.1    Terae, S.2    Takayashi, C.3
  • 42
    • 0033773974 scopus 로고    scopus 로고
    • Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia
    • Carta A, d'Adda T, Carrara F, Zeviani M. Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia. Arch Ophthalmol 2000; 118:1441-1445.
    • (2000) Arch Ophthalmol , vol.118 , pp. 1441-1445
    • Carta, A.1    D'Adda, T.2    Carrara, F.3    Zeviani, M.4
  • 43
    • 0034943837 scopus 로고    scopus 로고
    • Leu gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome
    • Leu gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Arch Neurol 2001; 58:1113-1118.
    • (2001) Arch Neurol , vol.58 , pp. 1113-1118
    • Seneca, S.1    Verhelst, H.2    De Meirleir, L.3
  • 45
    • 0034796328 scopus 로고    scopus 로고
    • Tyr mutation (5877G→A) associated with familial chronic progressive external ophthalmoplegia
    • Tyr mutation (5877G→A) associated with familial chronic progressive external ophthalmoplegia. J Med Genet 2001; 38:703-705.
    • (2001) J Med Genet , vol.38 , pp. 703-705
    • Ko, S.1    Makoto, Y.2    Kinji, O.3
  • 46
    • 0032834677 scopus 로고    scopus 로고
    • Mapping of autosomal dominant progressive external ophthalmoplegia to 1 to 7-cM critical region on 10q24
    • Li FY, Tariq M, Croxen R, et al. Mapping of autosomal dominant progressive external ophthalmoplegia to 1 to 7-cM critical region on 10q24. Neurology 1999; 53:1265-1271.
    • (1999) Neurology , vol.53 , pp. 1265-1271
    • Li, F.Y.1    Tariq, M.2    Croxen, R.3
  • 47
    • 0033551454 scopus 로고    scopus 로고
    • Autosomal dominant progressive external ophthalmoplegia. Distribution of multiple mitochondrial DNA deletions
    • Moslemi AR, Melberg A, Holme E, Oldfors A. Autosomal dominant progressive external ophthalmoplegia. Distribution of multiple mitochondrial DNA deletions. Neurology 1999; 53:79-84.
    • (1999) Neurology , vol.53 , pp. 79-84
    • Moslemi, A.R.1    Melberg, A.2    Holme, E.3    Oldfors, A.4
  • 48
    • 0035956482 scopus 로고    scopus 로고
    • Ant1, Twinkle POLG TP. New genes open your eyes to ophthalmoplegia
    • Hirano M, Di Mauro S. ANT1, Twinkle, POLG, and TP. New genes open your eyes to ophthalmoplegia. Neurology 2001; 57:2163-2165. • An excellent editorial on the autosomal dominant forms of chronic external ophthalmoplegia.
    • (2001) Neurology , vol.57 , pp. 2163-2165
    • Hirano, M.1    Di Mauro, S.2
  • 49
    • 0035956491 scopus 로고    scopus 로고
    • A novel missence adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
    • Napoli L, Bordoni A, Zeviani M, et al. A novel missence adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology 2001; 57:2295-2298. • The ANT1 gene encodes the adenine nucleotide translocator-1. A heterozygous T293C mutation of the ANT1 gene was identified in a Greek family with autosomal dominant progressive external ophthalmoplegia.
    • (2001) Neurology , vol.57 , pp. 2295-2298
    • Napoli, L.1    Bordoni, A.2    Zeviani, M.3
  • 50
    • 0034938364 scopus 로고    scopus 로고
    • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    • Spelbrink JN, Li FY, Tiranti V, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001; 28:223-231. • The authors report a novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases. Twinkle co-localizes with mtDNA in mitochondrial nucleoids. Screening of the gene encoding Twinkle in individuals with autosomal dominant progressive external ophthalmoplegia identified 11 different coding-region mutations co-segregating with the disorder in 12 autosomal dominant progressive external ophthalmoplegia pedigrees of various ethnic origins. The mutations cluster in a region of the protein proposed to be involved in subunit interactions. The function of Twinkle is inferred to be critical for the lifetime maintenance of human mtDNA integrity.
    • (2001) Nat Genet , vol.28 , pp. 223-231
    • Spelbrink, J.N.1    Li, F.Y.2    Tiranti, V.3
  • 51
    • 0035816472 scopus 로고    scopus 로고
    • Refinement of the adPEO linked locus on Chr10 and analysis of MRS4 and three other candidate genes
    • Lewis S, Hutchinson W, Di Nezza L, et al. Refinement of the adPEO linked locus on Chr10 and analysis of MRS4 and three other candidate genes. FEBS Lett 2001; 500:183-185.
    • (2001) FEBS Lett , vol.500 , pp. 183-185
    • Lewis, S.1    Hutchinson, W.2    Di Nezza, L.3
  • 52
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem G, Dermaut B, Lofgren A, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28:211-212. • The authors mapped a new locus for dominant progressive external ophthalmoplegia at 15q22-26 in a Belgian pedigree, and identified a heterozygous mutation in the polymerase motif B of the mtDNA polymerase gamma. POLG is the only mtDNA polymerase responsible for mtDNA replication.
    • (2001) Nat Genet , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3
  • 53
    • 0034938363 scopus 로고    scopus 로고
    • A helicase is born
    • Moraes CT. A helicase is born. Nature Genet 2001; 28:200-201.
    • (2001) Nature Genet , vol.28 , pp. 200-201
    • Moraes, C.T.1
  • 54
    • 0034096975 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
    • Nishino I, Spinazzola A, Papadimitriou A, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000; 47:792-800.
    • (2000) Ann Neurol , vol.47 , pp. 792-800
    • Nishino, I.1    Spinazzola, A.2    Papadimitriou, A.3
  • 55
    • 0031932272 scopus 로고    scopus 로고
    • Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutations
    • Isashiki Y, Nakagawa M, Ohba N, et al. Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutations. Acta Ophthalmol Scand 1998; 76:6-13.
    • (1998) Acta Ophthalmol Scand , vol.76 , pp. 6-13
    • Isashiki, Y.1    Nakagawa, M.2    Ohba, N.3
  • 56
    • 0036337738 scopus 로고    scopus 로고
    • Rod photoreceptor function in children with mitochondrial disorders
    • Cooper L, Hansen RM, Darras BT, et al. Rod photoreceptor function in children with mitochondrial disorders. Arch Ophthalmol 2002; 120:1055-1062.
    • (2002) Arch Ophthalmol , vol.120 , pp. 1055-1062
    • Cooper, L.1    Hansen, R.M.2    Darras, B.T.3
  • 57
    • 0032976653 scopus 로고    scopus 로고
    • Mitochondrial maculopathy: Geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation
    • Latkany P, Ciulla TA, Cacchillo PF, Malkoff MD. Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. Am J Ophthalmol 1999; 128:112-114.
    • (1999) Am J Ophthalmol , vol.128 , pp. 112-114
    • Latkany, P.1    Ciulla, T.A.2    Cacchillo, P.F.3    Malkoff, M.D.4
  • 58
    • 0033503921 scopus 로고    scopus 로고
    • Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNAleu A to G mutation
    • Smith PR, Bain SR, Good PA, et al. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNAleu A to G mutation. Ophthalmology 1999; 106:1101-1108.
    • (1999) Ophthalmology , vol.106 , pp. 1101-1108
    • Smith, P.R.1    Bain, S.R.2    Good, P.A.3
  • 59
    • 12944272137 scopus 로고    scopus 로고
    • Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness
    • Massin P, Virally-Monod M, Vialettes B, et al. Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. Ophthalmology 1999; 106:1821-1827.
    • (1999) Ophthalmology , vol.106 , pp. 1821-1827
    • Massin, P.1    Virally-Monod, M.2    Vialettes, B.3
  • 61
    • 0035209570 scopus 로고    scopus 로고
    • Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation
    • Porto FBO, Mack G, Sterboul MJ, et al. Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation. Am J Ophthalmol 2002; 132:935-937.
    • (2002) Am J Ophthalmol , vol.132 , pp. 935-937
    • Porto, F.B.O.1    Mack, G.2    Sterboul, M.J.3
  • 62
    • 0037094054 scopus 로고    scopus 로고
    • External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation
    • Hansrote S, Croul S, Selak M, et al. External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation. J Neurol Sci 2002; 197:63-67.
    • (2002) J Neurol Sci , vol.197 , pp. 63-67
    • Hansrote, S.1    Croul, S.2    Selak, M.3
  • 63
    • 0036205686 scopus 로고    scopus 로고
    • MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation
    • Mongini T, Doriguzzi C, Chiado-Piat L. MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation. Clin Neuropathol 2002; 21:72-76.
    • (2002) Clin Neuropathol , vol.21 , pp. 72-76
    • Mongini, T.1    Doriguzzi, C.2    Chiado-Piat, L.3
  • 64
    • 0035109913 scopus 로고    scopus 로고
    • Diffusion-weighted MR imaging in a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
    • Yonemura K, Hasegawa Y, Kimura K, et al. Diffusion-weighted MR imaging in a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Am J Neuroradiol 2001; 22:269-272.
    • (2001) Am J Neuroradiol , vol.22 , pp. 269-272
    • Yonemura, K.1    Hasegawa, Y.2    Kimura, K.3
  • 65
    • 0036216510 scopus 로고    scopus 로고
    • Application of NMR spectroscopy to monitoring MELAS treatment: A case-report
    • Moller HE, Wiedermann D, Kurlemann G. Application of NMR spectroscopy to monitoring MELAS treatment: a case-report. Muscle Nerve 2002; 25:593-600.
    • (2002) Muscle Nerve , vol.25 , pp. 593-600
    • Moller, H.E.1    Wiedermann, D.2    Kurlemann, G.3
  • 67
    • 0035852868 scopus 로고    scopus 로고
    • Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation
    • Bataillard M, Chatzoglou E, Rumbach L, et al. Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. Neurology 2001; 56:405-407.
    • (2001) Neurology , vol.56 , pp. 405-407
    • Bataillard, M.1    Chatzoglou, E.2    Rumbach, L.3
  • 68
    • 0034747856 scopus 로고    scopus 로고
    • An mtDNA mutation, 14453GA, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
    • Ravn K, Wibrand F, Hansen FJ, et al. An mtDNA mutation, 14453GA, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur J Hum Genet 2001; 9:805-809.
    • (2001) Eur J Hum Genet , vol.9 , pp. 805-809
    • Ravn, K.1    Wibrand, F.2    Hansen, F.J.3
  • 70
    • 0038665676 scopus 로고    scopus 로고
    • Gene therapy with the ND4 subunit gene recoded in the universal genetic code reverses a mitochondrial deficiency causing leber hereditary optic neuropathy
    • Guy J, Carelli V, Lewin A, et al. Gene therapy with the ND4 subunit gene recoded in the universal genetic code reverses a mitochondrial deficiency causing leber hereditary optic neuropathy [Abstract]. Neurology 2002; 58 (Suppl 3):A507.
    • (2002) Neurology , vol.58 , Issue.SUPPL. 3
    • Guy, J.1    Carelli, V.2    Lewin, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.