메뉴 건너뛰기




Volumn 21, Issue 7, 2006, Pages 357-364

Mitochondrial DNA deletions in Kearns-Sayre syndrome;Deleciones del ADN mitocondrial asociadas al síndrome de Kearns-Sayre

Author keywords

Kearns Sayre syndrome; Mitochondrial disease; mtDNA deletion

Indexed keywords

LACTIC ACID; MITOCHONDRIAL DNA; MUSCLE ENZYME;

EID: 33749659321     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (16)

References (42)
  • 1
    • 0142043300 scopus 로고    scopus 로고
    • Mitochondrial encephalopathy
    • Longo N. Mitochondrial encephalopathy. Neurol Clin N Am 2003;21:817-31.
    • (2003) Neurol Clin N Am , vol.21 , pp. 817-831
    • Longo, N.1
  • 2
    • 84924635809 scopus 로고
    • Retinitis pigmentosa, external ophtalmoplegia and complete heart block
    • Kearns TP, Sayre GP. Retinitis pigmentosa, external ophtalmoplegia and complete heart block. Ophtalmology 1958;60:280-9.
    • (1958) Ophtalmology , vol.60 , pp. 280-289
    • Kearns, T.P.1    Sayre, G.P.2
  • 4
    • 0242584408 scopus 로고    scopus 로고
    • Executive and visuspatial deficits in patients with chronic progressive external ophtalmoplegia and Kearns-Sayre syndrome
    • Bosbacg S, Kornblum C, Schroder R, Wagner M. Executive and visuspatial deficits in patients with chronic progressive external ophtalmoplegia and Kearns-Sayre syndrome. Brain 2003;126: 1231-40.
    • (2003) Brain , vol.126 , pp. 1231-1240
    • Bosbacg, S.1    Kornblum, C.2    Schroder, R.3    Wagner, M.4
  • 5
    • 0343632387 scopus 로고    scopus 로고
    • Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: A clinical and molecular genetic study of four children with Kearns-Sayre syndrome
    • Wilichowski E, Gruters A, Kruse K, Rating D, Beetz R, Korenke GC, et al. Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatr Res 1997;41:193-200.
    • (1997) Pediatr Res , vol.41 , pp. 193-200
    • Wilichowski, E.1    Gruters, A.2    Kruse, K.3    Rating, D.4    Beetz, R.5    Korenke, G.C.6
  • 6
    • 84938185996 scopus 로고
    • Reversible ischemic neurologic deficit in a patient with the Kearns-Sayre syndrome
    • Naranjo IC, Donderis MAC, Beollod VL, Peydro ED. Reversible ischemic neurologic deficit in a patient with the Kearns-Sayre syndrome. Stroke 1988;19:533.
    • (1988) Stroke , vol.19 , pp. 533
    • Naranjo, I.C.1    Donderis, M.A.C.2    Beollod, V.L.3    Peydro, E.D.4
  • 7
    • 0029127326 scopus 로고
    • Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome
    • Kosinski C, Mull M, Lethen H, Topper R. Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome. Stroke 1995; 26:1950-2.
    • (1995) Stroke , vol.26 , pp. 1950-1952
    • Kosinski, C.1    Mull, M.2    Lethen, H.3    Topper, R.4
  • 8
    • 0029996301 scopus 로고    scopus 로고
    • Cerebral infarction associated with Kearns-Sayre syndrome-related cardiomyopathy
    • Provenzale JM, VanLandingham K. Cerebral infarction associated with Kearns-Sayre syndrome-related cardiomyopathy. Neurology 1996;46:826-8.
    • (1996) Neurology , vol.46 , pp. 826-828
    • Provenzale, J.M.1    Vanlandingham, K.2
  • 9
    • 0031180734 scopus 로고    scopus 로고
    • Cerebral infarction associated with Kearns-Sayre syndrome
    • Chabrol B, Paquis V. Cerebral infarction associated with Kearns-Sayre syndrome. Neurology 1997;49:308.
    • (1997) Neurology , vol.49 , pp. 308
    • Chabrol, B.1    Paquis, V.2
  • 10
    • 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, Takahashi C, Kikuchi Y, Miyasaka K, Abe S, et al. MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology 1999;41:759-64.
    • (1999) Neuroradiology , vol.41 , pp. 759-764
    • Chu, B.C.1    Terae, S.2    Takahashi, C.3    Kikuchi, Y.4    Miyasaka, K.5    Abe, S.6
  • 11
    • 0033028210 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system
    • Tanji K, Vu TH, Schon EA, DiMauro S, Bonilla E. Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. Ann Neurol 1999;45: 377-83.
    • (1999) Ann Neurol , vol.45 , pp. 377-383
    • Tanji, K.1    Vu, T.H.2    Schon, E.A.3    DiMauro, S.4    Bonilla, E.5
  • 12
    • 1842615909 scopus 로고    scopus 로고
    • A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea
    • De Block CE, De Leeuw IH, Maassen JA, Ballaux D, Martin JJ. A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea. Exp Clin Endocrinol Diabet 2004;112:80-3.
    • (2004) Exp Clin Endocrinol Diabet , vol.112 , pp. 80-83
    • De Block, C.E.1    De Leeuw, I.H.2    Maassen, J.A.3    Ballaux, D.4    Martin, J.J.5
  • 13
    • 0034058869 scopus 로고    scopus 로고
    • Childhood encephalopaties and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial disorders
    • 105
    • Uusimaa J, Remes AM, Rantala H, Vainionpää, Herva R, Vuopala K, et al. Childhood encephalopaties and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders. Pediatrics 105;3:598-603.
    • Pediatrics , vol.3 , pp. 598-603
    • Uusimaa, J.1    Remes, A.M.2    Rantala, H.3    Vainionpää4    Herva, R.5    Vuopala, K.6
  • 14
    • 14244259670 scopus 로고    scopus 로고
    • Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    • Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004;114:925-31.
    • (2004) Pediatrics , vol.114 , pp. 925-931
    • Scaglia, F.1    Towbin, J.A.2    Craigen, W.J.3    Belmont, J.W.4    Smith, E.O.5    Neish, S.R.6
  • 17
    • 0141519140 scopus 로고    scopus 로고
    • Sustained polymorphic ventricular tachycardia unassociated with QT prolongation or bradycardia in the Kearns-Sayre syndrome
    • Oginosawa Y, Abe H, Nagatomo T, Mizuki T, Nakashima Y. Sustained polymorphic ventricular tachycardia unassociated with QT prolongation or bradycardia in the Kearns-Sayre syndrome. Pacing Clin Electrophysiol 2003;26:1911-2.
    • (2003) Pacing Clin Electrophysiol , vol.26 , pp. 1911-1912
    • Oginosawa, Y.1    Abe, H.2    Nagatomo, T.3    Mizuki, T.4    Nakashima, Y.5
  • 18
    • 0031702523 scopus 로고    scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • Zeviani M, Moraes CT, DiMauro S. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1998;51:1525-32.
    • (1998) Neurology , vol.51 , pp. 1525-1532
    • Zeviani, M.1    Moraes, C.T.2    DiMauro, S.3
  • 19
    • 0034939187 scopus 로고    scopus 로고
    • What is Kearns-Sayre syndrome after all?
    • Ashizawa T, Subramony SH. What is Kearns-Sayre syndrome after all? Arch Neurol 2001;58:1053-4.
    • (2001) Arch Neurol , vol.58 , pp. 1053-1054
    • Ashizawa, T.1    Subramony, S.H.2
  • 21
    • 0033840265 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome with a novel mitochondrial DNA deletion
    • Marin-García J, Goldenthal MJ, Sarnat HB. Kearns-Sayre syndrome with a novel mitochondrial DNA deletion. J Child Neurol 2000;15:555-8.
    • (2000) J Child Neurol , vol.15 , pp. 555-558
    • Marin-García, J.1    Goldenthal, M.J.2    Sarnat, H.B.3
  • 22
    • 0030176430 scopus 로고    scopus 로고
    • Detection and analysis of mitochondrial DNA deletions by whole genome PCR
    • Tengan CH, Moraes CT. Detection and analysis of mitochondrial DNA deletions by whole genome PCR. Biochem Mol Med 1996; 58:130-4.
    • (1996) Biochem Mol Med , vol.58 , pp. 130-134
    • Tengan, C.H.1    Moraes, C.T.2
  • 23
    • 0024596946 scopus 로고
    • A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
    • Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M, DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 1989;244:346-9.
    • (1989) Science , vol.244 , pp. 346-349
    • Schon, E.A.1    Rizzuto, R.2    Moraes, C.T.3    Nakase, H.4    Zeviani, M.5    DiMauro, S.6
  • 24
    • 0026532722 scopus 로고
    • Multiple mitochondrial DNA deletions in an elderly human individual
    • Zhang C, Baumer A, Maxwell RJ, Linnane AW, Nagley P. Multiple mitochondrial DNA deletions in an elderly human individual. FEBS Lett. 1992;297:34-8.
    • (1992) FEBS Lett , vol.297 , pp. 34-38
    • Zhang, C.1    Baumer, A.2    Maxwell, R.J.3    Linnane, A.W.4    Nagley, P.5
  • 25
    • 0031978512 scopus 로고    scopus 로고
    • Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging
    • Zhang C, Liu VWS, Addessi CL, Sheffield DA, Linnane AW, Nagley P. Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging. Hum Mutat 1998;11:360-71.
    • (1998) Hum Mutat , vol.11 , pp. 360-371
    • Zhang, C.1    Liu, V.W.S.2    Addessi, C.L.3    Sheffield, D.A.4    Linnane, A.W.5    Nagley, P.6
  • 26
    • 0028908586 scopus 로고
    • Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis
    • Rotig A, Goutieres F, Niaudet P, Rustin P, Chretien D, Guest G, et al. Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis. J Pediatr 1995;126:597-601.
    • (1995) J Pediatr , vol.126 , pp. 597-601
    • Rotig, A.1    Goutieres, F.2    Niaudet, P.3    Rustin, P.4    Chretien, D.5    Guest, G.6
  • 27
    • 0025044656 scopus 로고
    • Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
    • Mita S, Rizzuto R, Moraes CT, Shanske S, Arnaudo E, Fabrizi GM, et al. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 1990;18:561-7.
    • (1990) Nucleic Acids Res , vol.18 , pp. 561-567
    • Mita, S.1    Rizzuto, R.2    Moraes, C.T.3    Shanske, S.4    Arnaudo, E.5    Fabrizi, G.M.6
  • 28
    • 0025345775 scopus 로고
    • Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
    • Larson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 1990;28:131-36.
    • (1990) Pediatr Res , vol.28 , pp. 131-136
    • Larson, N.G.1    Holme, E.2    Kristiansson, B.3    Oldfors, A.4    Tulinius, M.5
  • 29
    • 33646254309 scopus 로고    scopus 로고
    • Enfermedades mitocondriales
    • Jiménez Escrig A, editor. Madrid: Díaz de Santos
    • Carod Artal FJ. Enfermedades mitocondriales. En: Jiménez Escrig A, editor. Manual de Neurogenética. Madrid: Díaz de Santos, 2003; p. 255-72.
    • (2003) Manual de Neurogenética , pp. 255-272
    • Carod Artal, F.J.1
  • 30
    • 0030752678 scopus 로고    scopus 로고
    • High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart
    • Fromenty B, Carrozzo R, Shanske S, Schon EA. High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. Am J Med Genet 1997;71:443-52.
    • (1997) Am J Med Genet , vol.71 , pp. 443-452
    • Fromenty, B.1    Carrozzo, R.2    Shanske, S.3    Schon, E.A.4
  • 31
    • 0030891867 scopus 로고    scopus 로고
    • Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia
    • Akaike M, Kawai H, Yokoi K, Kunishige M, Mine H, Nishida Y, et al. Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. Clin Cardiol 1997;20:239-43.
    • (1997) Clin Cardiol , vol.20 , pp. 239-243
    • Akaike, M.1    Kawai, H.2    Yokoi, K.3    Kunishige, M.4    Mine, H.5    Nishida, Y.6
  • 32
    • 0345698798 scopus 로고    scopus 로고
    • The common 4.977 base pair deletion of mitochondrial DNA preferentially accumulates in the cardiac conduction system of patients with Kearns-Sayre syndrome
    • Muller-Hocker J, Jacob U, Seibel P. The common 4.977 base pair deletion of mitochondrial DNA preferentially accumulates in the cardiac conduction system of patients with Kearns-Sayre syndrome. Mod Pathol 1998;11:295-301.
    • (1998) Mod Pathol , vol.11 , pp. 295-301
    • Muller-Hocker, J.1    Jacob, U.2    Seibel, P.3
  • 33
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt U, Harding 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, U.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 34
    • 0043209312 scopus 로고    scopus 로고
    • Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA
    • Solano A, Gámez J, Carod FJ, Pineda M, Playan A, López-Gallardo E, et al. Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA. J Med Genet 2003;40:e86.
    • (2003) J Med Genet , vol.40
    • Solano, A.1    Gámez, J.2    Carod, F.J.3    Pineda, M.4    Playan, A.5    López-Gallardo, E.6
  • 35
    • 0029334132 scopus 로고
    • Oftalmoplejia externa progresiva y síndrome de Kearns-Sayre: Un estudio clínico y molecular de seis casos
    • Barrientos A, Casademont J, Grau JM, Cardellach F, Montoya J, Estivill X, et al. Oftalmoplejia externa progresiva y síndrome de Kearns-Sayre: un estudio clínico y molecular de seis casos. Med Clin (Barc) 1995;105:180-4.
    • (1995) Med Clin (Barc) , vol.105 , pp. 180-184
    • Barrientos, A.1    Casademont, J.2    Grau, J.M.3    Cardellach, F.4    Montoya, J.5    Estivill, X.6
  • 37
    • 0030958207 scopus 로고    scopus 로고
    • A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples
    • De Coo IF, Gussinklo T, Arts PJ, Van Oost BA, Smeets HJ. A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples. J Neurol Sci 1997;149:37-40.
    • (1997) J Neurol Sci , vol.149 , pp. 37-40
    • De Coo, I.F.1    Gussinklo, T.2    Arts, P.J.3    Van Oost, B.A.4    Smeets, H.J.5
  • 38
    • 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
  • 39
    • 0034943837 scopus 로고    scopus 로고
    • A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome
    • Seneca S, Verhelst H, De Meirleir L, Meire F, Ceuterick-de Groote C, Lissens W, et al. A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Arch Neurol 2001;58:1053-4.
    • (2001) Arch Neurol , vol.58 , pp. 1053-1054
    • Seneca, S.1    Verhelst, H.2    De Meirleir, L.3    Meire, F.4    Ceuterick-de Groote, C.5    Lissens, W.6
  • 40
    • 0342502189 scopus 로고    scopus 로고
    • Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation
    • Barthelemy C, Ogier de Baulny H, Diaz J, Cheval MA, Frachon P, Romero N, et al. Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation. Ann Neurol 2001;49:607-17.
    • (2001) Ann Neurol , vol.49 , pp. 607-617
    • Barthelemy, C.1    Ogier De Baulny, H.2    Diaz, J.3    Cheval, M.A.4    Frachon, P.5    Romero, N.6
  • 41
    • 0344874044 scopus 로고    scopus 로고
    • Identical large scale rearrangement of a mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son
    • Puoti G, Carrara F, Sampaolo S, de Caro M, Vincitorio CM, Invernizzi F, et al. Identical large scale rearrangement of a mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. J Med Genet 2003;40:858-63.
    • (2003) J Med Genet , vol.40 , pp. 858-863
    • Puoti, G.1    Carrara, F.2    Sampaolo, S.3    De Caro, M.4    Vincitorio, C.M.5    Invernizzi, F.6
  • 42
    • 18544387713 scopus 로고    scopus 로고
    • Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome
    • Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, et al. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome. Am J Hum Genet 2002;71:679-83.
    • (2002) Am J Hum Genet , vol.71 , pp. 679-683
    • Shanske, S.1    Tang, Y.2    Hirano, M.3    Nishigaki, Y.4    Tanji, K.5    Bonilla, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.