메뉴 건너뛰기




Volumn 64, Issue 6, 2005, Pages 976-981

Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 20144372593     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000154518.31302.ED     Document Type: Article
Times cited : (47)

References (31)
  • 1
    • 0027525492 scopus 로고
    • Mitochondrial encephalomyopathies
    • DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993;50:1197-1208.
    • (1993) Arch Neurol , vol.50 , pp. 1197-1208
    • DiMauro, S.1    Moraes, C.T.2
  • 2
    • 0037972522 scopus 로고    scopus 로고
    • Mechanism of disease. Mitochondrial respiratory-chain diseases
    • DiMauro S, Schon EA. Mechanism of disease. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-2668.
    • (2003) N Engl J Med , vol.348 , pp. 2656-2668
    • DiMauro, S.1    Schon, E.A.2
  • 3
    • 0024596946 scopus 로고
    • A direct repeat is a hot spot for large-scale deletion of human mitochondrial DNA
    • Schon EA, Rizzuto R, Moraes CT, et al. A direct repeat is a hot spot for large-scale deletion of human mitochondrial DNA. Science 1989;244:346-349.
    • (1989) Science , vol.244 , pp. 346-349
    • Schon, E.A.1    Rizzuto, R.2    Moraes, C.T.3
  • 4
    • 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, et al. 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;86:7952-7956.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 7952-7956
    • Shoffner, J.M.1    Lott, M.T.2    Voljavec, A.S.3
  • 6
    • 0025250482 scopus 로고
    • Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
    • Zeviani M, Bresolin N, Gellera C, et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990;47:904-914.
    • (1990) Am J Hum Genet , vol.47 , pp. 904-914
    • Zeviani, M.1    Bresolin, N.2    Gellera, C.3
  • 7
    • 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
  • 8
    • 0037015695 scopus 로고    scopus 로고
    • Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size
    • Gellerich PN, Deschauer M, Chen Y, Müller T, Neudecker S, Zierz S. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size. Biochem Biophys Acta 2002;1556:41-52.
    • (2002) Biochem Biophys Acta , vol.1556 , pp. 41-52
    • Gellerich, P.N.1    Deschauer, M.2    Chen, Y.3    Müller, T.4    Neudecker, S.5    Zierz, S.6
  • 9
    • 0032231623 scopus 로고    scopus 로고
    • Epidemiology of A3243G, the mutation for mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
    • Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998;63:447-454.
    • (1998) Am J Hum Genet , vol.63 , pp. 447-454
    • Majamaa, K.1    Moilanen, J.S.2    Uimonen, S.3
  • 10
    • 0042204972 scopus 로고    scopus 로고
    • Epidemiology of 8344A>G mtDNA mutation for myoclonus epilepsy and ragged-red fibers (MERRF) syndrome
    • Remes AM, Kärppä M, Karvonen S-L, et al. Epidemiology of 8344A>G mtDNA mutation for myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. J Neurol Neurosurg Psychiatry 2003;74:1158-1159.
    • (2003) J Neurol Neurosurg Psychiatry , vol.74 , pp. 1158-1159
    • Remes, A.M.1    Kärppä, M.2    Karvonen, S.-L.3
  • 11
    • 0034116896 scopus 로고    scopus 로고
    • Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment
    • Lehtonen MS, Uimonen S, Hassinen IE, Majamaa K. Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment. Eur J Hum Genet 2000;8:315-318.
    • (2000) Eur J Hum Genet , vol.8 , pp. 315-318
    • Lehtonen, M.S.1    Uimonen, S.2    Hassinen, I.E.3    Majamaa, K.4
  • 13
    • 0033862962 scopus 로고    scopus 로고
    • The epidemiology of pathogenetic mitochondrial DNA mutations
    • Chinnery PF, Johnson MA, Wardell TM, et al. The epidemiology of pathogenetic mitochondrial DNA mutations. Ann Neurol 2000;48:188-193.
    • (2000) Ann Neurol , vol.48 , pp. 188-193
    • Chinnery, P.F.1    Johnson, M.A.2    Wardell, T.M.3
  • 14
    • 0023813744 scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-1346.
    • (1988) Neurology , vol.38 , pp. 1339-1346
    • Zeviani, M.1    Moraes, C.T.2    DiMauro, S.3
  • 15
    • 0032980279 scopus 로고    scopus 로고
    • Mitochondrial disorders: Clinical and genetic features
    • Simon DK, Johns DR. Mitochondrial disorders: clinical and genetic features. Annu Rev Med 1999;50:111-127.
    • (1999) Annu Rev Med , vol.50 , pp. 111-127
    • Simon, D.K.1    Johns, D.R.2
  • 18
    • 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
  • 19
    • 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
  • 20
    • 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
  • 21
    • 84961475150 scopus 로고
    • Mutations of the mitochondrial DNA: The contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies
    • Gerbitz KD, Obermaier-Kusser B, Lestienne P, et al. Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies. J Clin Chem Clin Biochem 1990;28:241-250.
    • (1990) J Clin Chem Clin Biochem , vol.28 , pp. 241-250
    • Gerbitz, K.D.1    Obermaier-Kusser, B.2    Lestienne, P.3
  • 22
    • 0025986459 scopus 로고
    • Mitochondrial DNA deletions in mitochondrial cytopathies: Observation in 19 patients
    • Yamamoto M, Clemens PR, Engel AG. Mitochondrial DNA deletions in mitochondrial cytopathies: observation in 19 patients. Neurology 1991;41:1822-1828.
    • (1991) Neurology , vol.41 , pp. 1822-1828
    • Yamamoto, M.1    Clemens, P.R.2    Engel, A.G.3
  • 23
    • 0025191359 scopus 로고
    • Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome
    • Shanske S, Moraes CT, Lombes A, et al. Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome. Neurology 1990;40:24-28.
    • (1990) Neurology , vol.40 , pp. 24-28
    • Shanske, S.1    Moraes, C.T.2    Lombes, A.3
  • 24
    • 0025330764 scopus 로고
    • Kearns-Sayre syndrome: Different amounts of deleted mitochondrial DNA are present in several tissues
    • Ponzetto C, Bresolin N, Bordoni A, et al. Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several tissues. J Neurol Sci 1990;96:207-210.
    • (1990) J Neurol Sci , vol.96 , pp. 207-210
    • Ponzetto, C.1    Bresolin, N.2    Bordoni, A.3
  • 25
    • 0026446996 scopus 로고
    • Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome
    • de Vries DD, Buzing CJ, Ruitenbeek W, et al. Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome. Neuromuscul Disord 1992;2:185-195.
    • (1992) Neuromuscul Disord , vol.2 , pp. 185-195
    • De Vries, D.D.1    Buzing, C.J.2    Ruitenbeek, W.3
  • 26
    • 0030837435 scopus 로고    scopus 로고
    • Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: A family study of A3243G mitochondrial heteroplasmy
    • Harrison TJ, Boles RG, Johnson DR, LeBlond C, Wong L-JC. Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy. Am J Ophthalmol 1997;124:217-221.
    • (1997) Am J Ophthalmol , vol.124 , pp. 217-221
    • Harrison, T.J.1    Boles, R.G.2    Johnson, D.R.3    LeBlond, C.4    Wong, L.-J.C.5
  • 29
    • 0035142916 scopus 로고    scopus 로고
    • Relative fitness of carriers of the mitochondrial DNA mutation 3243A>G
    • Moilanen JS, Majamaa K. Relative fitness of carriers of the mitochondrial DNA mutation 3243A>G. Eur J Hum Genet 2001;9:59-62.
    • (2001) Eur J Hum Genet , vol.9 , pp. 59-62
    • Moilanen, J.S.1    Majamaa, K.2
  • 30
    • 0034746790 scopus 로고    scopus 로고
    • Decrease of 3243A>G mtDNA mutation from blood in MELAS syndrome: A longitudinal study
    • Rahman S, Poulton J, Marchington D, Suomalainen A. Decrease of 3243A>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 2001;68:238-240.
    • (2001) Am J Hum Genet , vol.68 , pp. 238-240
    • Rahman, S.1    Poulton, J.2    Marchington, D.3    Suomalainen, A.4
  • 31
    • 0033551454 scopus 로고    scopus 로고
    • Autosomal dominant progressive external ophthalmoplegia: Distribution of multiple mitochondrial DNA deletions
    • Moslemi A-R, 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.