메뉴 건너뛰기




Volumn 29, Issue 3, 1997, Pages 235-246

Mitochondrial DNA and disease

Author keywords

Encephalopathy; Mitochondrial disease; mtDNA mutations; Myopathy; Respiratory chain

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0030879372     PISSN: 07853890     EISSN: None     Source Type: Journal    
DOI: 10.3109/07853899708999341     Document Type: Review
Times cited : (34)

References (119)
  • 1
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-65.
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 3
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992; 61: 1175-212.
    • (1992) Annu Rev Biochem , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 4
    • 78651128209 scopus 로고
    • Intramitochondrial fibers with DNA characteristics
    • Nass MMK, Nass S. Intramitochondrial fibers with DNA characteristics. J Cell Biol 1963; 19: 593-629.
    • (1963) J Cell Biol , vol.19 , pp. 593-629
    • Nass, M.M.K.1    Nass, S.2
  • 5
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Herding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988; 331: 717-9.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Herding, A.E.2    Morgan-Hughes, J.A.3
  • 6
    • 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: 1427-30.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 7
    • 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
  • 8
    • 0024328462 scopus 로고
    • Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • Moraes CT, DiMauro S, Zevianl M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989; 320: 1293-9.
    • (1989) N Engl J Med , vol.320 , pp. 1293-1299
    • Moraes, C.T.1    Dimauro, S.2    Zevianl, M.3
  • 9
    • 0029059965 scopus 로고
    • Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: A molecular genetic and pathological study
    • Brockington M, Alsanjari N, Sweeney MG, Morgan-Hughes JA, Scaravilli F, Harding AE. Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study. J Neurol Sci 1995; 131: 78-87.
    • (1995) J Neurol Sci , vol.131 , pp. 78-87
    • Brockington, M.1    Alsanjari, N.2    Sweeney, M.G.3    Morgan-Hughes, J.A.4    Scaravilli, F.5    Harding, A.E.6
  • 10
    • 0024590185 scopus 로고
    • Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome
    • Rötig A, Colonna M, Bonnefont JP, et al. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet 1989; i: 902-3.
    • (1989) Lancet , vol.1 , pp. 902-903
    • Rötig, A.1    Colonna, M.2    Bonnefont, J.P.3
  • 11
    • 0027381483 scopus 로고
    • Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus
    • Dunbar DR, Moonie PA, Swingler RJ, Davidson D, Roberts R, Holt IJ. Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus. Hum Mol Genet 1993; 2: 1619-24.
    • (1993) Hum Mol Genet , vol.2 , pp. 1619-1624
    • Dunbar, D.R.1    Moonie, P.A.2    Swingler, R.J.3    Davidson, D.4    Roberts, R.5    Holt, I.J.6
  • 12
    • 0028286575 scopus 로고
    • Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?
    • Poulton J, Morten KJ, Weber K, Brown GK, Bindoff L. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum Mol Genet 1994; 3: 947-51.
    • (1994) Hum Mol Genet , vol.3 , pp. 947-951
    • Poulton, J.1    Morten, K.J.2    Weber, K.3    Brown, G.K.4    Bindoff, L.5
  • 14
    • 0026620865 scopus 로고
    • (8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome
    • (8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 1992; 51: 1201-12.
    • (1992) Am J Hum Genet , vol.51 , pp. 1201-1212
    • Larsson, N.-G.1    Tulinius, M.H.2    Holme, E.3
  • 17
    • 0027226069 scopus 로고
    • Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
    • Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-94.
    • (1993) Nat Genet , vol.4 , pp. 289-294
    • Prezant, T.R.1    Agapian, J.V.2    Bohlman, M.C.3
  • 18
    • 0028094531 scopus 로고
    • Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness
    • Reid FM, Vernham GA, Jacobs HT. Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness. Hum Mol Genet 1994; 3: 1435-6.
    • (1994) Hum Mol Genet , vol.3 , pp. 1435-1436
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 19
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-3.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.-I.1    Nonaka, I.2    Horai, S.3
  • 20
    • 0025534162 scopus 로고
    • Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
    • Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990; 173: 816-22.
    • (1990) Biochem Biophys Res Commun , vol.173 , pp. 816-822
    • Kobayashi, Y.1    Momoi, M.Y.2    Tominaga, K.3
  • 22
    • 0026004614 scopus 로고
    • A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
    • Goto Y-i, 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: 238-40.
    • (1991) Biochim Biophys Acta , vol.1097 , pp. 238-240
    • Goto, Y.-I.1    Nonaka, I.2    Horai, S.3
  • 23
    • 0027935355 scopus 로고
    • Leu(UUR)gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
    • Leu(UUR)gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochem Biophys Res Commun 1994; 202: 1624-30.
    • (1994) Biochem Biophys Res Commun , vol.202 , pp. 1624-1630
    • Goto, Y.1    Tsugane, K.2    Tanabe, Y.3    Nonaka, I.4    Horai, S.5
  • 24
    • 0029046428 scopus 로고
    • A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
    • Manfredi G, Schon EA, Moraes CT, et al. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disord 1995; 5: 391-8.
    • (1995) Neuromuscul Disord , vol.5 , pp. 391-398
    • Manfredi, G.1    Schon, E.A.2    Moraes, C.T.3
  • 29
    • 0025267548 scopus 로고
    • A new mitochondrial disease associated with mitochondrial . DNA heteroplasmy
    • Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial . DNA heteroplasmy. Am J Hum Genet 1990; 46: 428-33.
    • (1990) Am J Hum Genet , vol.46 , pp. 428-433
    • Holt, I.J.1    Harding, A.E.2    Petty, R.K.H.3    Morgan-Hughes, J.A.4
  • 31
    • 0028810803 scopus 로고
    • Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
    • De Meirleir L, Seneca S, Lissens W, Schoentjes E, Desprechins B. Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Pediatr Neurol 1995; 13: 242-6.
    • (1995) Pediatr Neurol , vol.13 , pp. 242-246
    • De Meirleir, L.1    Seneca, S.2    Lissens, W.3    Schoentjes, E.4    Desprechins, B.5
  • 32
    • 0029122341 scopus 로고
    • A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
    • Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 1995; 38: 468-72.
    • (1995) Ann Neurol , vol.38 , pp. 468-472
    • Thyagarajan, D.1    Shanske, S.2    Vazquez-Memije, M.3    De Vivo, D.4    DiMauro, S.5
  • 33
  • 35
    • 0028900387 scopus 로고
    • A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological and molecular genetic study
    • Nelson I, Hanna MG, Alsanjari N, Scaravilli F, Morgan-Hughes JA, Harding AE. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological and molecular genetic study. Ann Neurol 1995; 37: 400-3.
    • (1995) Ann Neurol , vol.37 , pp. 400-403
    • Nelson, I.1    Hanna, M.G.2    Alsanjari, N.3    Scaravilli, F.4    Morgan-Hughes, J.A.5    Harding, A.E.6
  • 39
    • 0028917662 scopus 로고
    • Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: Different pnenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation
    • Hanna MG, Nelson I, Sweeney MG, et al. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different pnenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. Am J Hum Genet 1995; 56: 1026-33.
    • (1995) Am J Hum Genet , vol.56 , pp. 1026-1033
    • Hanna, M.G.1    Nelson, I.2    Sweeney, M.G.3
  • 40
    • 0028927272 scopus 로고
    • Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus
    • Hao H, Bonilla E, Manfredi G, DiMauro S, Moraes CT. Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am J Hum Genet 1995; 56: 1017-25.
    • (1995) Am J Hum Genet , vol.56 , pp. 1017-1025
    • Hao, H.1    Bonilla, E.2    Manfredi, G.3    DiMauro, S.4    Moraes, C.T.5
  • 41
    • 0025260002 scopus 로고
    • Mitochondrial mtDNA mutation in fatal infantile cardiomyopathy
    • Tanaka M, Ino H, Ohno K, et al. Mitochondrial mtDNA mutation in fatal infantile cardiomyopathy. Lancet 1990; 336: 1452.
    • (1990) Lancet , vol.336 , pp. 1452
    • Tanaka, M.1    Ino, H.2    Ohno, K.3
  • 42
    • 0028786838 scopus 로고
    • A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy
    • Santorelli FM, Mak S-C, Vàzquez-Acevedo M, et al. A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. Biochem Biophys Res Commun 1995; 216: 835-40.
    • (1995) Biochem Biophys Res Commun , vol.216 , pp. 835-840
    • Santorelli, F.M.1    Mak, S.-C.2    Vàzquez-Acevedo, M.3
  • 43
  • 50
    • 0027282274 scopus 로고
    • Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism
    • Bindoff LA, Howell N, Poulton J, et al. Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism. J Biol Chem 1993; 268: 19559-64.
    • (1993) J Biol Chem , vol.268 , pp. 19559-19564
    • Bindoff, L.A.1    Howell, N.2    Poulton, J.3
  • 54
    • 0025854830 scopus 로고
    • Mutations in mitochondrial tRNA genes: A frequent cause of neuromuscular diseases
    • Lauber J, Marsac C, Kadenbach B, Seibel P. Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. Nucleic Acids Res 1991; 19: 1393-7.
    • (1991) Nucleic Acids Res , vol.19 , pp. 1393-1397
    • Lauber, J.1    Marsac, C.2    Kadenbach, B.3    Seibel, P.4
  • 57
    • 0025944560 scopus 로고
    • Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigrees
    • 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: 939-50.
    • (1991) Am J Hum Genet , vol.49 , pp. 939-950
    • Howell, N.1    Bindoff, L.A.2    McCullough, D.A.3
  • 59
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
    • Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1992; 187: 1551-7.
    • (1992) Biochem Biophys Res Commun , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 60
    • 0028908634 scopus 로고
    • A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy
    • Lamminen T, Majander A, Juvonen V, et al. A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1995; 56: 1238-40.
    • (1995) Am J Hum Genet , vol.56 , pp. 1238-1240
    • Lamminen, T.1    Majander, A.2    Juvonen, V.3
  • 61
    • 0028342847 scopus 로고
    • A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenese subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
    • Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenese subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994; 91: 6206-10.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 62
    • 0029967483 scopus 로고    scopus 로고
    • Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    • de Vries DD, Went LN, Bruyn GW, et al. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996; 58: 703-11.
    • (1996) Am J Hum Genet , vol.58 , pp. 703-711
    • De Vries, D.D.1    Went, L.N.2    Bruyn, G.W.3
  • 63
    • 0030001270 scopus 로고    scopus 로고
    • Leu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroplastic anaemia
    • Leu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroplastic anaemia. Br J Haematol 1996; 93: 845-55.
    • (1996) Br J Haematol , vol.93 , pp. 845-855
    • Gattermann, N.1    Retzlaff, S.2    Wang, Y.-L.3
  • 64
    • 0027190874 scopus 로고
    • Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ('MERRF mutation')
    • Silvestri G, Ciafaloni E, Santorelli FM, et al. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ('MERRF mutation'). Neurology 1993; 43: 1200-6.
    • (1993) Neurology , vol.43 , pp. 1200-1206
    • Silvestri, G.1    Ciafaloni, E.2    Santorelli, F.M.3
  • 65
    • 0027508148 scopus 로고
    • (8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome
    • (8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 1993; 52: 551-6.
    • (1993) Am J Hum Genet , vol.52 , pp. 551-556
    • Holme, E.1    Larsson, N.-G.2    Oldfors, A.3    Tulinius, M.4    Sahlin, P.5    Stenman, G.6
  • 67
    • 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: 391-8.
    • (1992) Ann Neurol , vol.31 , pp. 391-398
    • Ciafaloni, E.1    Ricci, E.2    Shanske, S.3
  • 68
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes: A distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16: 481-8.
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    DiMauro, S.3    De Vivo, D.C.4    Rowland, L.P.5
  • 69
    • 0026906885 scopus 로고
    • Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992; 1: 368-71.
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.W.1    Lemkes, H.H.P.J.2    Ruitenbeek, W.3
  • 70
    • 0026462744 scopus 로고
    • Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
    • Reardon W, Ross RJM, Sweeney MG, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992; 340: 1376-9.
    • (1992) Lancet , vol.340 , pp. 1376-1379
    • Reardon, W.1    Ross, R.J.M.2    Sweeney, M.G.3
  • 72
    • 0026621445 scopus 로고
    • Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
    • Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992; 51: 1187-200.
    • (1992) Am J Hum Genet , vol.51 , pp. 1187-1200
    • Boulet, L.1    Karpati, G.2    Shoubridge, E.A.3
  • 74
    • 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: 453-78.
    • (1991) Annu Rev Cell Biol , vol.7 , pp. 453-478
    • Clayton, D.A.1
  • 75
    • 0026608057 scopus 로고
    • MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
    • Chomyn A, Martinuzzi A, Yoneda M, et al. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA 1992; 89: 4221-5.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4221-4225
    • Chomyn, A.1    Martinuzzi, A.2    Yoneda, M.3
  • 76
    • 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: 852-8.
    • (1992) Am J Hum Genet , vol.50 , pp. 852-858
    • Tatuch, Y.1    Christodoulou, J.2    Feigenbaum, A.3
  • 78
    • 0028936818 scopus 로고
    • Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome
    • Mäkelä-Bengs P, Suomalainen A, Majander A, et al. Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr Res 1995; 37: 634-9.
    • (1995) Pediatr Res , vol.37 , pp. 634-639
    • Mäkelä-Bengs, P.1    Suomalainen, A.2    Majander, A.3
  • 79
    • 0029166941 scopus 로고
    • Leber's 'plus': Neurological abnormalities in patients with Leber's hereditary optic neuropathy
    • Nikoskelainen EK, Marttila RJ, Huoponen K, et al. Leber's 'plus': neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 1995; 59: 160-4.
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 160-164
    • Nikoskelainen, E.K.1    Marttila, R.J.2    Huoponen, K.3
  • 80
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Herding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118: 319-37.
    • (1995) Brain , vol.118 , pp. 319-337
    • Riordan-Eva, P.1    Sanders, M.D.2    Govan, G.G.3    Sweeney, M.G.4    Da Costa, J.5    Herding, A.E.6
  • 81
    • 0025820109 scopus 로고
    • X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: Evidence from segregation analysis for dependence on X chromosome inactivation
    • Bu X, Rotter JI. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 1991; 88: 8198-202.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 8198-8202
    • Bu, X.1    Rotter, J.I.2
  • 82
    • 0029981001 scopus 로고    scopus 로고
    • Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy
    • Chalmers RM, Davis MB, Sweeney MG, Wood NW, Harding AE. Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. Am J Hum Genet 1996; 59: 103-8.
    • (1996) Am J Hum Genet , vol.59 , pp. 103-108
    • Chalmers, R.M.1    Davis, M.B.2    Sweeney, M.G.3    Wood, N.W.4    Harding, A.E.5
  • 83
    • 0029011225 scopus 로고
    • Mitochondrial DNA diseases: Genotype and phenotype in Leber's hereditary optic neuropathy
    • Harding AE, Riordan-Eva P, Govan GG. Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy. Muscle Nerve 1995; Suppl 3: S82-4.
    • (1995) Muscle Nerve , Issue.3 SUPPL.
    • Harding, A.E.1    Riordan-Eva, P.2    Govan, G.G.3
  • 84
    • 0029816017 scopus 로고    scopus 로고
    • Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
    • Mackey DA, Oostra R-J, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 1996; 59: 481-5.
    • (1996) Am J Hum Genet , vol.59 , pp. 481-485
    • Mackey, D.A.1    Oostra, R.-J.2    Rosenberg, T.3
  • 85
    • 0029053943 scopus 로고
    • Nucleo-mitochondrial interactions in mitochondrial gene expression
    • Grivell LA. Nucleo-mitochondrial interactions in mitochondrial gene expression. Crit Rev Biochem Mol Biol 1995; 30: 121-64.
    • (1995) Crit Rev Biochem Mol Biol , vol.30 , pp. 121-164
    • Grivell, L.A.1
  • 86
    • 0026015896 scopus 로고
    • MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
    • Moraes CT, Shanske S, Tritschler H-J, 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
  • 87
    • 0026541124 scopus 로고
    • Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
    • Tritschler H-J, Andreetta F, Moraes CT, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 1992; 42: 209-17.
    • (1992) Neurology , vol.42 , pp. 209-217
    • Tritschler, H.-J.1    Andreetta, F.2    Moraes, C.T.3
  • 88
    • 0028223609 scopus 로고
    • Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion
    • Larsson N-G, Oldfors A, Holme E, Clayton DA. Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Commun 1994; 200: 1374-81.
    • (1994) Biochem Biophys Res Commun , vol.200 , pp. 1374-1381
    • Larsson, N.-G.1    Oldfors, A.2    Holme, E.3    Clayton, D.A.4
  • 89
    • 0028029271 scopus 로고
    • Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion
    • Poulton J, Morten K, Freeman-Emmerson C, et al. Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. Hum Mol Genet 1994; 3: 1763-9.
    • (1994) Hum Mol Genet , vol.3 , pp. 1763-1769
    • Poulton, J.1    Morten, K.2    Freeman-Emmerson, C.3
  • 90
    • 0029982347 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase γ is expressed and translated in the absence of mitochondrial DNA maintenance and replication
    • Davis AF, Ropp PA, Clayton DA, Copeland W. Mitochondrial DNA polymerase γ is expressed and translated in the absence of mitochondrial DNA maintenance and replication. Nucleic Acids Res 1996; 24: 2753-9.
    • (1996) Nucleic Acids Res , vol.24 , pp. 2753-2759
    • Davis, A.F.1    Ropp, P.A.2    Clayton, D.A.3    Copeland, W.4
  • 91
    • 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, et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339: 309-11.
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3
  • 92
    • 0026637067 scopus 로고
    • Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
    • Suomalainen A, Majander A, Haltia M, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992; 90: 61-6.
    • (1992) J Clin Invest , vol.90 , pp. 61-66
    • Suomalainen, A.1    Majander, A.2    Haltia, M.3
  • 93
    • 0026002054 scopus 로고
    • Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies
    • Servidei S, Zeviani M, Manfredi G, et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991; 41: 1053-9.
    • (1991) Neurology , vol.41 , pp. 1053-1059
    • Servidei, S.1    Zeviani, M.2    Manfredi, G.3
  • 94
    • 0029978895 scopus 로고    scopus 로고
    • Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism
    • Melberg A, Lundberg PO, Henriksson KG, Olsson Y, Stålberg E. Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve 1996; 19: 751-7.
    • (1996) Muscle Nerve , vol.19 , pp. 751-757
    • Melberg, A.1    Lundberg, P.O.2    Henriksson, K.G.3    Olsson, Y.4    Stålberg, E.5
  • 95
    • 85036482772 scopus 로고    scopus 로고
    • Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: Clinical, biochemical and molecular genetic features of the 10q-linked disease
    • in press
    • Suomalainen A, Majander A, Wallin M, et al. Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical and molecular genetic features of the 10q-linked disease. Neurology (in press).
    • Neurology
    • Suomalainen, A.1    Majander, A.2    Wallin, M.3
  • 96
    • 0028833524 scopus 로고
    • An autosomal locus predisposing to deletions of mitochondrial DNA
    • Suomalainen A, Kaukonen J, Amati P, et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995; 9: 146-51.
    • (1995) Nat Genet , vol.9 , pp. 146-151
    • Suomalainen, A.1    Kaukonen, J.2    Amati, P.3
  • 97
    • 19144363053 scopus 로고    scopus 로고
    • An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p
    • Kaukonen JA, Amati P, Suomalainen A, et al. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 1996; 58: 763-9.
    • (1996) Am J Hum Genet , vol.58 , pp. 763-769
    • Kaukonen, J.A.1    Amati, P.2    Suomalainen, A.3
  • 98
    • 85036488404 scopus 로고    scopus 로고
    • Chromosomal localization of mtTF1, mtSSB and endoG, three human housekeeping genes involved in mitochondrial biogenesis
    • 199
    • Tiranti V, Rossi E, Ruiz-Carrillo AR, et al. Chromosomal localization of mtTF1, mtSSB and endoG, three human housekeeping genes involved in mitochondrial biogenesis. Genomics 199; 25: 559-64.
    • Genomics , vol.25 , pp. 559-564
    • Tiranti, V.1    Rossi, E.2    Ruiz-Carrillo, A.R.3
  • 99
    • 0025828342 scopus 로고
    • Mitochondrial DNA deletions in inherited recurrent myoglobinuria
    • Ohno K, Tanaka M, Sahashi K, et al. Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann Neurol 1991; 29: 364-9.
    • (1991) Ann Neurol , vol.29 , pp. 364-369
    • Ohno, K.1    Tanaka, M.2    Sahashi, K.3
  • 100
    • 0028301915 scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder
    • Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994; 44: 721-7.
    • (1994) Neurology , vol.44 , pp. 721-727
    • Hirano, M.1    Silvestri, G.2    Blake, D.M.3
  • 101
    • 0026463567 scopus 로고
    • Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA
    • Suomalainen A, Paetau A, Leinenen H, Majander A, Peltonen L, Somer H. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet 1992; 340: 1319-20.
    • (1992) Lancet , vol.340 , pp. 1319-1320
    • Suomalainen, A.1    Paetau, A.2    Leinenen, H.3    Majander, A.4    Peltonen, L.5    Somer, H.6
  • 102
    • 0029996721 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
    • Bohlega S, Tanji K, Santorelli FM, Hirano M, Aljishi A, DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996; 46: 1329-34.
    • (1996) Neurology , vol.46 , pp. 1329-1334
    • Bohlega, S.1    Tanji, K.2    Santorelli, F.M.3    Hirano, M.4    Aljishi, A.5    DiMauro, S.6
  • 103
    • 0027478804 scopus 로고
    • Mitochondrial DNA deletions in inclusion body myositis
    • Oldfors A, Larsson N-G, Lindberg C, Holme E. Mitochondrial DNA deletions in inclusion body myositis. Brain 1993; 116: 325-36.
    • (1993) Brain , vol.116 , pp. 325-336
    • Oldfors, A.1    Larsson, N.-G.2    Lindberg, C.3    Holme, E.4
  • 104
    • 0025116342 scopus 로고
    • Mechanism of the neurotoxicity of MPTP. An update
    • Singer TP, Ramsey RR. Mechanism of the neurotoxicity of MPTP. An update. FEBS Lett 1990; 274: 1 -8.
    • (1990) FEBS Lett , vol.274 , pp. 1-8
    • Singer, T.P.1    Ramsey, R.R.2
  • 106
    • 0025183062 scopus 로고
    • Induction of Alzheimer antigens by an uncoupler of oxidative phosphorylation
    • Blass JP, Baker AC, Ko L, Black RS. Induction of Alzheimer antigens by an uncoupler of oxidative phosphorylation. Arch Neurol 1990; 47: 864-9.
    • (1990) Arch Neurol , vol.47 , pp. 864-869
    • Blass, J.P.1    Baker, A.C.2    Ko, L.3    Black, R.S.4
  • 107
    • 0025024024 scopus 로고
    • Cytochrome c oxidase deficiency in Alzheimer's disease
    • Parker WD, Filley CM, Parks JK. Cytochrome c oxidase deficiency in Alzheimer's disease. Neurology 1990; 40: 1302-3.
    • (1990) Neurology , vol.40 , pp. 1302-1303
    • Parker, W.D.1    Filley, C.M.2    Parks, J.K.3
  • 108
    • 0027200741 scopus 로고
    • Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
    • Shoffner JM, Brown MD, Torroni A, et al. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 1993; 17: 171-84.
    • (1993) Genomics , vol.17 , pp. 171-184
    • Shoffner, J.M.1    Brown, M.D.2    Torroni, A.3
  • 109
    • 0029091194 scopus 로고
    • A mitochondrial DNA clone is associated with increased risk for Alzheimer's disease
    • Hutchin T, Cortopassi G. A mitochondrial DNA clone is associated with increased risk for Alzheimer's disease. Proc Natl Acad Sci USA 1995; 92: 6892-5.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 6892-6895
    • Hutchin, T.1    Cortopassi, G.2
  • 110
    • 0026028226 scopus 로고
    • Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy
    • Arnaudo E, Dalakas M, Shanske S, Moraes CT, DiMauro S, Schon EA. Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet 1991; 337: 508-10.
    • (1991) Lancet , vol.337 , pp. 508-510
    • Arnaudo, E.1    Dalakas, M.2    Shanske, S.3    Moraes, C.T.4    DiMauro, S.5    Schon, E.A.6
  • 111
    • 0025674177 scopus 로고
    • Detection of a specific mitochondrial DNA deletion in tissues of older humans
    • Cortopassi GA, Arnheim N. Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res 1990; 18: 6927-33.
    • (1990) Nucleic Acids Res , vol.18 , pp. 6927-6933
    • Cortopassi, G.A.1    Arnheim, N.2
  • 113
    • 0027021442 scopus 로고
    • Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain
    • Soong NW, Hinton DR, Cortopassi G, Arnheim N. Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nat Genet 1992; 2: 318-23.
    • (1992) Nat Genet , vol.2 , pp. 318-323
    • Soong, N.W.1    Hinton, D.R.2    Cortopassi, G.3    Arnheim, N.4
  • 114
  • 115
    • 0029056559 scopus 로고
    • leu(UUR) mutation and successful therapy with coenzyme Q10
    • leu(UUR) mutation and successful therapy with coenzyme Q10. Endocr J 1995; 42: 141-5.
    • (1995) Endocr J , vol.42 , pp. 141-145
    • Suzuki, Y.1    Kadowaki, H.2    Atsumi, Y.3
  • 116
    • 0024317560 scopus 로고
    • Spontaneous Kearns-Sayre/ chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip-replication model and metabolic therapy
    • Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC. Spontaneous Kearns-Sayre/ chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc Natl Acad Sci USA 1989; 86: 7952-6.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 7952-7956
    • Shoffner, J.M.1    Lott, M.T.2    Voljavec, A.S.3    Soueidan, S.A.4    Costigan, D.A.5    Wallace, D.C.6
  • 117
    • 0028180592 scopus 로고
    • Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis
    • Bakker HD, Scholte HR, Jenesons JA, Busch HF, Abeling NG, van Gennip AH. Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis. J Inher Metab Dis 1994; 17: 196-204.
    • (1994) J Inher Metab Dis , vol.17 , pp. 196-204
    • Bakker, H.D.1    Scholte, H.R.2    Jenesons, J.A.3    Busch, H.F.4    Abeling, N.G.5    Van Gennip, A.H.6
  • 118
    • 0030020607 scopus 로고    scopus 로고
    • + and attenuation of lactacidemia during nicotinamide treatment of a patient with the MELAS syndrome
    • + and attenuation of lactacidemia during nicotinamide treatment of a patient with the MELAS syndrome. Life Sci 1996; 58: 691-9.
    • (1996) Life Sci , vol.58 , pp. 691-699
    • Majamaa, K.1    Rusanen, H.2    Remes, A.M.3    Pyhtinen, J.4    Hassinen, I.E.5
  • 119


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.