메뉴 건너뛰기




Volumn 50, Issue 11, 1993, Pages 1197-1208

Mitochondrial Encephalomyopathies

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIDECARENONE; UBIQUINOL CYTOCHROME C REDUCTASE;

EID: 0027525492     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.1993.00540110075008     Document Type: Article
Times cited : (359)

References (84)
  • 1
    • 78651128209 scopus 로고
    • Intramitochondrial fibers with DNA characteristics
    • Nass S, Nass MMK. Intramitochondrial fibers with DNA characteristics. J Cell Biol. 1963;19:593-629.
    • (1963) J Cell Biol. , vol.19 , pp. 593-629
    • Nass, S.1    Nass, M.M.K.2
  • 4
    • 0025885770 scopus 로고
    • Replication and transcription of vertebrate mitochondrial DNA
    • Clayton DA. Replication and transcription of vertebrate mitochondrial DNA. Annu Rev Cell Biol. 1991;7:453-478.
    • (1991) Annu Rev Cell Biol. , vol.7 , pp. 453-478
    • Clayton, D.A.1
  • 5
    • 0001970987 scopus 로고
    • The human mitochondrial genetic system
    • New York, NY: Raven Press, In: DiMauro S, Wallace DC, eds
    • Attardi G. The human mitochondrial genetic system. In: DiMauro S, Wallace DC, eds. Mitochondrial DNA in Human Pathology. New York, NY: Raven Press; 1993:9-25.
    • (1993) Mitochondrial DNA in Human Pathology , pp. 9-25
    • Attardi, G.1
  • 6
    • 0003783656 scopus 로고
    • Maternally inherited diseases
    • New York, NY: Raven Press, In: DiMauro S, Wallace DC, eds
    • Wallace DC, Lott MT. Maternally inherited diseases. In: DiMauro S, Wallace DC, eds. Mitochondrial DNA in Human Pathology. New York, NY: Raven Press; 1993:63-83.
    • (1993) Mitochondrial DNA in Human Pathology , pp. 63-83
    • Wallace, D.C.1    Lott, M.T.2
  • 7
    • 0025836655 scopus 로고
    • Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
    • Hayashi JI, Ohta S, Kikuchi A, Takemitsu M, Goto YI, Nonaka I. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci U S A. 1991; 88:1371-1375.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 1371-1375
    • Hayashi, J.I.1    Ohta, S.2    Kikuchi, A.3    Takemitsu, M.4    Goto, Y.I.5    Nonaka, I.6
  • 8
    • 0026316024 scopus 로고
    • Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy
    • Hammans SR, Sweeney MG, Holt IJ, et al. Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy. J Neurol Sci. 1992;107:87-92.
    • (1992) J Neurol Sci. , vol.107 , pp. 87-92
    • Hammans, S.R.1    Sweeney, M.G.2    Holt, I.J.3
  • 9
    • 0026907560 scopus 로고
    • Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions
    • Moraes CT, Ricci E, Petruzzella V, et al. Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nature Genet. 1992;1:359-367.
    • (1992) Nature Genet. , vol.1 , pp. 359-367
    • Moraes, C.T.1    Ricci, E.2    Petruzzella, V.3
  • 10
    • 0024163051 scopus 로고
    • Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological and biochemical characterization of a mitochondrial DNA disease
    • Wallace DC, Zheng X, Lott MT, et al. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological and biochemical characterization of a mitochondrial DNA disease. Cell. 1988;55:601-610.
    • (1988) Cell , vol.55 , pp. 601-610
    • Wallace, D.C.1    Zheng, X.2    Lott, M.T.3
  • 12
    • 0025345775 scopus 로고
    • Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
    • Larsson NG, Holme B, Kristiansson B. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res. 1990;28: 131-136.
    • (1990) Pediatr Res. , vol.28 , pp. 131-136
    • Larsson, N.G.1    Holme, B.2    Kristiansson, B.3
  • 13
    • 0025968682 scopus 로고
    • Pearson syndrome and mitochondrial encephalopathy in a patient with a deletion of mtDNA
    • McShane MA, Hammans SR, Sweeney M, et al. Pearson syndrome and mitochondrial encephalopathy in a patient with a deletion of mtDNA. Am J Hum Genet. 1991;48:39-42.
    • (1991) Am J Hum Genet. , vol.48 , pp. 39-42
    • McShane, M.A.1    Hammans, S.R.2    Sweeney, M.3
  • 15
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • 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
  • 16
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988;331:717-719.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan Hughes, J.A.3
  • 17
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace DC, Singh G, Loft 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    Loft, M.T.3
  • 18
    • 0025873627 scopus 로고
    • Clinical syndromes associated with ragged red fibers
    • Rowland LP, Blake D, Hirano M, et al. Clinical syndromes associated with ragged red fibers. Rev Neurol. 1991;147:467-473.
    • (1991) Rev Neurol. , vol.147 , pp. 467-473
    • Rowland, L.P.1    Blake, D.2    Hirano, M.3
  • 19
    • 0024499802 scopus 로고
    • Duplications of mitochondrial DNA in mitochondrial myopathy
    • Poulton J, Deadman ME, Gardiner RM. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet. 1989;1:236-240.
    • (1989) Lancet , vol.1 , pp. 236-240
    • Poulton, J.1    Deadman, M.E.2    Gardiner, R.M.3
  • 20
    • 0024811699 scopus 로고
    • Tandem direct duplications of mitochondrial DNA in mitochondrial myopathies: analysis of nucleotide sequence and tissue distribution
    • Poulton J, Deadman ME, Gardiner RM. Tandem direct duplications of mitochondrial DNA in mitochondrial myopathies: analysis of nucleotide sequence and tissue distribution. Nucleic Acids Res. 1989;17:10223-10229.
    • (1989) Nucleic Acids Res. , vol.17 , pp. 10223-10229
    • Poulton, J.1    Deadman, M.E.2    Gardiner, R.M.3
  • 21
    • 0024328462 scopus 로고
    • Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 1989;320:1293-1299.
    • (1989) N Engl J Med. , vol.320 , pp. 1293-1299
    • Moraes, C.T.1    DiMauro, S.2    Zeviani, M.3
  • 22
    • 0024798264 scopus 로고
    • Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
    • Holt IJ, Harding AE, Cooper JM, et al. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol. 1989;26:699-708.
    • (1989) Ann Neurol. , vol.26 , pp. 699-708
    • Holt, I.J.1    Harding, A.E.2    Cooper, J.M.3
  • 23
    • 0025367794 scopus 로고
    • Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies
    • Zeviani M, Gellera C, Pannacci M, et al. Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Ann Neurol. 1990; 28:94-97.
    • (1990) Ann Neurol. , vol.28 , pp. 94-97
    • Zeviani, M.1    Gellera, C.2    Pannacci, M.3
  • 24
    • 0025630063 scopus 로고
    • Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies
    • Goto Y, Koga Y, Horai S, Nonaka I. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. J Neurol Sci. 1990;100:63-69.
    • (1990) J Neurol Sci. , vol.100 , pp. 63-69
    • Goto, Y.1    Koga, Y.2    Horai, S.3    Nonaka, I.4
  • 25
    • 0026099983 scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies
    • Degoul F, Nelson I, Lestienne P, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies. J Neurol Sci. 1991;101:168-177.
    • (1991) J Neurol Sci. , vol.101 , pp. 168-177
    • Degoul, F.1    Nelson, I.2    Lestienne, P.3
  • 26
    • 0025133424 scopus 로고
    • Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy
    • Rotig A, Cormier V, Blanche S, et al. Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy. J Clin Invest. 1990;86:1601-1608.
    • (1990) J Clin Invest , vol.86 , pp. 1601-1608
    • Rotig, A.1    Cormier, V.2    Blanche, S.3
  • 27
    • 0026681490 scopus 로고
    • MELAS: clinical features, biochemistry, and molecular genetics
    • Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol. 1992;31:391-398.
    • (1992) Ann Neurol. , vol.31 , pp. 391-398
    • Ciafaloni, E.1    Ricci, E.2    Shanske, S.3
  • 28
    • 0025666322 scopus 로고
    • A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I, Horai S. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990; 348:651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 29
    • 0026004614 scopus 로고
    • A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
    • Goto YI, Nonaka I, Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta. 1991;1097:238-240.
    • (1991) Biochim Biophys Acta , vol.1097 , pp. 238-240
    • Goto, Y.I.1    Nonaka, I.2    Horai, S.3
  • 30
    • 0027335882 scopus 로고
    • Atypical clinical presentations associated with the MELAS mutation at position 2343 of human mitochondrial DNA
    • Moraes CT, Ciacci F, Silvestri G, et al. Atypical clinical presentations associated with the MELAS mutation at position 2343 of human mitochondrial DNA. Neuromusc Disord. 1993;3:43-50.
    • (1993) Neuromusc Disord , vol.3 , pp. 43-50
    • Moraes, C.T.1    Ciacci, F.2    Silvestri, G.3
  • 31
    • 0025807222 scopus 로고
    • Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)
    • Zeviani M, Gellera C, Antozzi C, et al. Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR). Lancet. 1991;338:143-147.
    • (1991) Lancet , vol.338 , pp. 143-147
    • Zeviani, M.1    Gellera, C.2    Antozzi, C.3
  • 32
  • 33
    • 84941824971 scopus 로고
    • Identification of novel pathogenic mitochondrial DNA mutations in patients with mitochondrial encephalomyopathies
    • Moraes CT, Ciacci F, Bonilla E, et al. Identification of novel pathogenic mitochondrial DNA mutations in patients with mitochondrial encephalomyopathies. Neurology. 1993;43:A401. Abstract.
    • (1993) Neurology , vol.43 , pp. A401
    • Moraes, C.T.1    Ciacci, F.2    Bonilla, E.3
  • 34
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation
    • Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell. 1990;61:931-937.
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.S.3    Seibel, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 35
    • 0026688649 scopus 로고
    • A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)
    • Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S. A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet. 1992;51:1213-1217.
    • (1992) Am J Hum Genet. , vol.51 , pp. 1213-1217
    • Silvestri, G.1    Moraes, C.T.2    Shanske, S.3    Oh, S.J.4    DiMauro, S.5
  • 36
    • 0027865639 scopus 로고
    • A MERRF/MELAS overlap syndrome with a new point mutation in the mitochondrial DNA tRNALys gene
    • Zeviani M, Muntoni F, Savarese N, et al. A MERRF/MELAS overlap syndrome with a new point mutation in the mitochondrial DNA tRNALys gene. EurJ Hum Genet. 1993;1:80-87.
    • (1993) EurJ Hum Genet. , vol.1 , pp. 80-87
    • Zeviani, M.1    Muntoni, F.2    Savarese, N.3
  • 37
    • 0027190874 scopus 로고
    • Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ('MERRF' mutation)
    • Silvestri G, Ciafaloni E, Santorelli F, et al. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ('MERRF' mutation). Neurology. 1993;43:1200-1206.
    • (1993) Neurology , vol.43 , pp. 1200-1206
    • Silvestri, G.1    Ciafaloni, E.2    Santorelli, F.3
  • 38
    • 0025267548 scopus 로고
    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
    • Holt IJ, Harding AE, Petty RK, Morgan Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990; 46:428-433.
    • (1990) Am J Hum Genet. , vol.46 , pp. 428-433
    • Holt, I.J.1    Harding, A.E.2    Petty, R.K.3    Morgan Hughes, J.A.4
  • 39
    • 0026566850 scopus 로고
    • Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
    • Tatuch Y, Christodoulou J, Feigenbaum A, et al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet. 1992;50:852-858.
    • (1992) Am J Hum Genet. , vol.50 , pp. 852-858
    • Tatuch, Y.1    Christodoulou, J.2    Feigenbaum, A.3
  • 40
    • 0026469235 scopus 로고
    • Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation
    • Shoffner JM, Fernhoff PM, Krawiecki NS, et al. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology. 1992;42:2168-2174.
    • (1992) Neurology , vol.42 , pp. 2168-2174
    • Shoffner, J.M.1    Fernhoff, P.M.2    Krawiecki, N.S.3
  • 41
    • 0026808701 scopus 로고
    • Mitochondrial DNA mutation and Leigh's syndrome
    • Sakuta R, Goto Y, Horai S, et al. Mitochondrial DNA mutation and Leigh's syndrome. Ann Neurol. 1992;32:597-598.
    • (1992) Ann Neurol. , vol.32 , pp. 597-598
    • Sakuta, R.1    Goto, Y.2    Horai, S.3
  • 43
  • 45
    • 0001372955 scopus 로고
    • Leber's hereditary optic neuropathy
    • Newman NJ. Leber's hereditary optic neuropathy. Ophthalmol Clin North Am. 1991;4:431-447.
    • (1991) Ophthalmol Clin North Am , vol.4 , pp. 431-447
    • Newman, N.J.1
  • 46
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • 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
  • 47
    • 0026034238 scopus 로고
    • Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7
    • Vilkki J, Ott J, Savontaus ML, Aula P, Nikoskelainen EK. Optic atrophy in Leber hereditary optic neuroretinopathy 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
  • 49
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
    • King MP, Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science. 1989;246:500-503.
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 50
    • 0026718556 scopus 로고
    • The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle
    • Moraes CT, Ricci E, Bonilla E, DiMauro S, Schon EA. The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet. 1992;50:934-949.
    • (1992) Am J Hum Genet. , vol.50 , pp. 934-949
    • Moraes, C.T.1    Ricci, E.2    Bonilla, E.3    DiMauro, S.4    Schon, E.A.5
  • 51
    • 0024398752 scopus 로고
    • Detection of 'deleted' mitochondrial genomes in cytochrome-c-oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome
    • Mita S, Schmidt B, Schon EA, DiMauro S, Bonilla E. Detection of 'deleted' mitochondrial genomes in cytochrome-c-oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci USA. 1989;86:9509-9513.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9509-9513
    • Mita, S.1    Schmidt, B.2    Schon, E.A.3    DiMauro, S.4    Bonilla, E.5
  • 52
    • 0025373850 scopus 로고
    • Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis
    • Nakase H, Moraes CT, Rizzuto R, Lombes A, DiMauro S, Schon EA. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am J Hum Genet. 1990;46:418-427.
    • (1990) Am J Hum Genet. , vol.46 , pp. 418-427
    • Nakase, H.1    Moraes, C.T.2    Rizzuto, R.3    Lombes, A.4    DiMauro, S.5    Schon, E.A.6
  • 53
    • 0025968499 scopus 로고
    • In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
    • Chomyn A, Meola G, Bresolin N, Lai ST, Scarlato G, Attardi G. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol. 1991;11: 2236-2244.
    • (1991) Mol Cell Biol. , vol.11 , pp. 2236-2244
    • Chomyn, A.1    Meola, G.2    Bresolin, N.3    Lai, S.T.4    Scarlato, G.5    Attardi, G.6
  • 54
    • 0026573082 scopus 로고
    • Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
    • King MP, Koga Y, Davidson M, Schon EA. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mol Cell Biol. 1992;12:480-490.
    • (1992) Mol Cell Biol. , vol.12 , pp. 480-490
    • King, M.P.1    Koga, Y.2    Davidson, M.3    Schon, E.A.4
  • 55
    • 0026457825 scopus 로고
    • Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy
    • Yoneda M, Chomyn A, Martinuzzi A, Hurko O, Attardi G. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Natl Acad Sci U S A. 1992;89:11164-11168.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 11164-11168
    • Yoneda, M.1    Chomyn, A.2    Martinuzzi, A.3    Hurko, O.4    Attardi, G.5
  • 56
    • 0024400389 scopus 로고
    • A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy
    • Parker WD, Oley CA, Parks JK. A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy. N Engl J Med. 1989;320:1331-1333.
    • (1989) N Engl J Med. , vol.320 , pp. 1331-1333
    • Parker, W.D.1    Oley, C.A.2    Parks, J.K.3
  • 57
  • 58
    • 0027496432 scopus 로고
    • Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion
    • Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AHV. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet. 1993;53:663-669.
    • (1993) Am J Hum Genet. , vol.53 , pp. 663-669
    • Bodnar, A.G.1    Cooper, J.M.2    Holt, I.J.3    Leonard, J.V.4    Schapira, A.H.V.5
  • 59
    • 0001765125 scopus 로고
    • Mitochondrial diseases
    • 2nd ed. New York, NY: Churchill Livingstone, In: Mastaglia FL, Walton JN, eds
    • Morgan-Hughes JA. Mitochondrial diseases. In: Mastaglia FL, Walton JN, eds. Skeletal Muscle Pathology. 2nd ed. New York, NY: Churchill Livingstone; 1992: 367-424.
    • (1992) Skeletal Muscle Pathology , pp. 367-424
    • Morgan-Hughes, J.A.1
  • 60
    • 0002082551 scopus 로고
    • Mitochondrial encephalamyopathies
    • Boston, Mass: Butterworth-Heinemann, In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM, eds
    • DiMauro S. Mitochondrial encephalamyopathies. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM, eds. The Metabolic and Genetic Basis of Neurological Disease. Boston, Mass: Butterworth-Heinemann; 1993:665-694.
    • (1993) The Metabolic and Genetic Basis of Neurological Disease , pp. 665-694
    • DiMauro, S.1
  • 61
    • 0027013015 scopus 로고
    • Mutations and polymorphisms in the pyruvate dehydrogenase El alpha gene
    • Dahl HHM, Brown GK, Brown RM, et al. Mutations and polymorphisms in the pyruvate dehydrogenase El alpha gene. Hum Mutat. 1992;1:97-102.
    • (1992) Hum Mutat , vol.1 , pp. 97-102
    • Dahl, H.H.M.1    Brown, G.K.2    Brown, R.M.3
  • 62
    • 84937172782 scopus 로고
    • Lipid disorders of muscle
    • Boston, Mass: Butterworth-Heinemann, In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM, eds
    • Jackson S, Turnbull DM. Lipid disorders of muscle. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM, eds. The Molecular and Genetic Basis of Neurological Disease. Boston, Mass: Butterworth-Heinemann; 1993:651-661.
    • (1993) The Molecular and Genetic Basis of Neurological Disease , pp. 651-661
    • Jackson, S.1    Turnbull, D.M.2
  • 63
    • 0026744712 scopus 로고
    • Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
    • Taroni F, Verderio E, Fiorucci S, et al. Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci U S A. 1992; 89:8429-8433.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 8429-8433
    • Taroni, F.1    Verderio, E.2    Fiorucci, S.3
  • 64
    • 0024556632 scopus 로고
    • Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation
    • Miranda AF, Ishii S, DiMauro S, Shay JW. Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation. Neurology. 1989;39:697-702.
    • (1989) Neurology , vol.39 , pp. 697-702
    • Miranda, A.F.1    Ishii, S.2    DiMauro, S.3    Shay, J.W.4
  • 65
    • 0023919376 scopus 로고
    • Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases
    • Morgan-Hughes JA, Schapira AHV, Cooper JM, Clark JB. Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases. J Bioenerg Biomembr 1986;20:365-382.
    • (1986) J Bioenerg Biomembr , vol.20 , pp. 365-382
    • Morgan-Hughes, J.A.1    Schapira, A.H.V.2    Cooper, J.M.3    Clark, J.B.4
  • 66
    • 0024403260 scopus 로고
    • Tissue-specific defect of complex I of the mitochondrial respiratory chain
    • Watmough NJ, Birch-Machin MA, Bindoff LA, et al. Tissue-specific defect of complex I of the mitochondrial respiratory chain. Biochem Biophys Res Commun. 1989;160:623-627.
    • (1989) Biochem Biophys Res Commun , vol.160 , pp. 623-627
    • Watmough, N.J.1    Birch-Machin, M.A.2    Bindoff, L.A.3
  • 67
    • 0141610413 scopus 로고
    • Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
    • Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A. 1989; 86:2379-2382.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 2379-2382
    • Ogasahara, S.1    Engel, A.G.2    Frens, D.3    Mack, D.4
  • 68
    • 0023820495 scopus 로고
    • Defects in the cytochrome bcl complex in mitochondrial diseases
    • Kennaway NG. Defects in the cytochrome bcl complex in mitochondrial diseases. J Bioenerg Biomembr. 1988;20:325-352.
    • (1988) J Bioenerg Biomembr , vol.20 , pp. 325-352
    • Kennaway, N.G.1
  • 69
    • 0022471112 scopus 로고
    • Mitochondrial myopathy: tissue-specific expression of a defect in ubiquinol-cytochrome c reductase
    • Darley Usmar VM, Watanabe M, Uchiyama Y, et al. Mitochondrial myopathy: tissue-specific expression of a defect in ubiquinol-cytochrome c reductase. Clin Chim Acta. 1986;158:253-261.
    • (1986) Clin Chim Acta , vol.158 , pp. 253-261
    • Darley Usmar, V.M.1    Watanabe, M.2    Uchiyama, Y.3
  • 70
    • 0021449807 scopus 로고
    • 31P-NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
    • Eleff S, Kennaway NG, Buist NR, et al. 31P-NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci U S A. 1984;81:3529-3533.
    • (1984) Proc Natl Acad Sci U S A , vol.81 , pp. 3529-3533
    • Eleff, S.1    Kennaway, N.G.2    Buist, N.R.3
  • 71
    • 0021186586 scopus 로고
    • Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria
    • Papadimitriou A, Neustein HB, DiMauro S, Stanton R, Bresolin N. Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria. Pediatr Res. 1984;18:1023-1028.
    • (1984) Pediatr Res. , vol.18 , pp. 1023-1028
    • Papadimitriou, A.1    Neustein, H.B.2    DiMauro, S.3    Stanton, R.4    Bresolin, N.5
  • 72
    • 0025131092 scopus 로고
    • Cytochrome c oxidase deficiency
    • DiMauro S, Lombes A, Nakase H, et al. Cytochrome c oxidase deficiency. Pediatr Res. 1990;28:536-541.
    • (1990) Pediatr Res. , vol.28 , pp. 536-541
    • DiMauro, S.1    Lombes, A.2    Nakase, H.3
  • 73
    • 0026064240 scopus 로고
    • Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach
    • Tritschler HJ, Bonilla E, Lombes A, et al. Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach. Neurology. 1991;41:300-305.
    • (1991) Neurology , vol.41 , pp. 300-305
    • Tritschler, H.J.1    Bonilla, E.2    Lombes, A.3
  • 74
    • 0023615870 scopus 로고
    • Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase: a new mitochondrial multisystem disorder
    • Bardosi A, Creutzfeldt W, DiMauro S, et al. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase: a new mitochondrial multisystem disorder. Acta Neuropathol (Berl). 1987;74:248-258.
    • (1987) Acta Neuropathol (Berl) , vol.74 , pp. 248-258
    • Bardosi, A.1    Creutzfeldt, W.2    DiMauro, S.3
  • 75
    • 84941828271 scopus 로고    scopus 로고
    • Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE): clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder
    • In press
    • Hirano M, Silvestri G, Blake D, et al. Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE): clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology. In press.
    • Neurology
    • Hirano, M.1    Silvestri, G.2    Blake, D.3
  • 76
    • 12144263535 scopus 로고
    • The mitochondrial protein import machinery
    • New York, NY: Raven Press, In: Sato T, DiMauro S, eds
    • Schatz G. The mitochondrial protein import machinery. In: Sato T, DiMauro S, eds. Mitochondrial Encephalomyopathies. New York, NY: Raven Press; 1991: 57-73.
    • (1991) Mitochondrial Encephalomyopathies , pp. 57-73
    • Schatz, G.1
  • 77
    • 0025211899 scopus 로고
    • Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes mutO methylmalonic acidemia
    • Ledley FD, Jansen R, Nham SU, Fenton WA, Rosenberg LE. Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes mutO methylmalonic acidemia. Proc Natl Acad Sci U S A. 1990;87:3147-3150.
    • (1990) Proc Natl Acad Sci U S A , vol.87 , pp. 3147-3150
    • Ledley, F.D.1    Jansen, R.2    Nham, S.U.3    Fenton, W.A.4    Rosenberg, L.E.5
  • 79
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature. 1989;339:309-311.
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    DiMauro, S.5    DiDonato, S.6
  • 80
    • 0343624979 scopus 로고
    • Inherited mendelian defects
    • New York, NY: Raven Press, In: DiMauro S, Wallace DC, eds
    • Zeviani M, Tiranti V. Inherited mendelian defects. In: DiMauro S, Wallace DC, eds. Mitochondrial DNA in Human Pathology. New York, NY: Raven Press; 1993:85-95.
    • (1993) Mitochondrial DNA in Human Pathology , pp. 85-95
    • Zeviani, M.1    Tiranti, V.2
  • 81
    • 0026015896 scopus 로고
    • MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases
    • Moraes CT, Shanske S, Tritschler HJ, et al. MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991;48:492-501.
    • (1991) Am J Hum Genet. , vol.48 , pp. 492-501
    • Moraes, C.T.1    Shanske, S.2    Tritschler, H.J.3
  • 82
    • 0026541124 scopus 로고
    • Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
    • Tritschler HJ, Andreetta F, Moraes CT, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology. 1992;42: 209-217.
    • (1992) Neurology , vol.42 , pp. 209-217
    • Tritschler, H.J.1    Andreetta, F.2    Moraes, C.T.3
  • 83
    • 0026906885 scopus 로고
    • Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • van den Ouweland JMW, Lemkes HHPJ, Ruitenbeek W, et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet. 1992;1:368-371.
    • (1992) Nature Genet. , vol.1 , pp. 368-371
    • van den Ouweland, J.M.W.1    Lemkes, H.H.P.J.2    Ruitenbeek, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.