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Volumn 55, Issue 1, 1998, Pages 17-24

Mitochondrial myopathies: Genetic mechanisms

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0031932864     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.55.1.17     Document Type: Review
Times cited : (20)

References (32)
  • 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;290:457-474.
    • (1981) Nature , vol.290 , pp. 457-474
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 2
    • 0019423857 scopus 로고
    • Distinctive features of the 5′-terminal sequences the mitochondrial mRNAs
    • Montoya J, Ojala D, Attardi G, Distinctive features of the 5′-terminal sequences the mitochondrial mRNAs. Nature. 1981;290:465-470.
    • (1981) Nature , vol.290 , pp. 465-470
    • Montoya, J.1    Ojala, D.2    Attardi, G.3
  • 4
    • 0019429346 scopus 로고
    • Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts
    • Case JT, Wallace DC. Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts. Somat Cell Genet. 1981;7:103-108.
    • (1981) Somat Cell Genet , vol.7 , pp. 103-108
    • Case, J.T.1    Wallace, D.C.2
  • 5
    • 0019399168 scopus 로고
    • Mechanisms of evolution in animal mitochondrial DNA
    • Brown WM. Mechanisms of evolution in animal mitochondrial DNA. Ann N Y Acad Sci. 1981;361:119-134.
    • (1981) Ann N Y Acad Sci , vol.361 , pp. 119-134
    • Brown, W.M.1
  • 6
    • 0023811053 scopus 로고
    • Normal oxidative damage to mitochondrial and nuclear DNA is extensive
    • Richter C, Park JW, Ames BN. Normal oxidative damage to mitochondrial and nuclear DNA is extensive, Proc Natl Acad Sci U S A. 1988;85:6465-6467.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , pp. 6465-6467
    • Richter, C.1    Park, J.W.2    Ames, B.N.3
  • 7
    • 0013609751 scopus 로고
    • The elucidation of the human mitochondrial genome
    • Benzi G, ed. London, England: John Libby & Co Ltd.
    • Attardi G. The elucidation of the human mitochondrial genome. In: Benzi G, ed. Advances in Myochemistry. London, England: John Libby & Co Ltd; 1987:157-171.
    • (1987) Advances in Myochemistry , pp. 157-171
    • Attardi, G.1
  • 8
    • 0025180756 scopus 로고
    • A mitochondrial machinery for membrane translocation of precursor proteins
    • Pfanner N, Neupert W. A mitochondrial machinery for membrane translocation of precursor proteins. Biochem Soc Trans. 1990;18:513-515.
    • (1990) Biochem Soc Trans , vol.18 , pp. 513-515
    • Pfanner, N.1    Neupert, W.2
  • 9
    • 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
  • 10
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani M, Servedi 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    Servedi, S.2    Gellera, C.3    Bertini, E.4    DiMauro, S.5    DiDonato, S.6
  • 11
    • 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
  • 12
    • 0024447842 scopus 로고
    • Multiple deletions in mitochondrial DNA at direct repeats of D-loop regions in cases of familial mitochondrial myopathy
    • Yuzaki M, Onkoshi N, Kanazawa I, Kagawa Y, Ohta S. Multiple deletions in mitochondrial DNA at direct repeats of D-loop regions In cases of familial mitochondrial myopathy. Biochem Biophys Res Commun. 1989;164:1352-1357.
    • (1989) Biochem Biophys Res Commun , vol.164 , pp. 1352-1357
    • Yuzaki, M.1    Onkoshi, N.2    Kanazawa, I.3    Kagawa, Y.4    Ohta, S.5
  • 13
    • 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;29:364-369.
    • (1991) Ann Neurol , vol.29 , pp. 364-369
    • Ohno, K.1    Tanaka, M.2    Sahashi, K.3
  • 14
    • 0025004427 scopus 로고
    • Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomypathy
    • Ozawa T, Tanaka M, Sugiyama S, et al. Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomypathy. Biochem Biophys Res Commun. 1990;170:830-836.
    • (1990) Biochem Biophys Res Commun , vol.170 , pp. 830-836
    • Ozawa, T.1    Tanaka, M.2    Sugiyama, S.3
  • 15
    • 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 Genets 1991;48:492-501.
    • (1991) Am J Hum Genets , vol.48 , pp. 492-501
    • Moraes, C.T.1    Shanske, S.2    Tritschler, H.J.3
  • 16
    • 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 U S A. 1989;86:7952-7956.
    • (1989) Proc Natl Acad Sci U S A , 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
  • 17
    • 0024336469 scopus 로고
    • Deletions of muscle mitochondrial D in mitochondrial myopathies: Sequence analysis and possible mechanisms
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial D in mitochondrial myopathies: sequence analysis and possible mechanisms. Nucleic Acids Res. 1989;17:4465-4469.
    • (1989) Nucleic Acids Res , vol.17 , pp. 4465-4469
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 18
    • 0025044656 scopus 로고
    • Recombination via flanking direct repeats is a major cause of targe-scale deletions of human mitochondrial DNA
    • Mita S, Rizzuto R, Moraes CT, et al. Recombination via flanking direct repeats is a major cause of targe-scale deletions of human mitochondrial DNA. Nucleic Acids Res. 1990;18:561-567.
    • (1990) Nucleic Acids Res , vol.18 , pp. 561-567
    • Mita, S.1    Rizzuto, R.2    Moraes, C.T.3
  • 20
    • 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
  • 24
    • 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
  • 25
    • 0025191359 scopus 로고
    • Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome
    • Shankse 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
    • Shankse, S.1    Moraes, C.T.2    Lombes, A.3
  • 26
    • 0024398752 scopus 로고
    • Detection of 'deleted' mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with a deletion of mtDNA
    • 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 a deletion of mtDNA. Proc Natl Acad Sci U S A. 1989;86:9509-9513.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 9509-9513
    • Mita, S.1    Schmidt, B.2    Schon, E.A.3    DiMauro, S.4    Bonilla, E.5
  • 27
    • 0025276996 scopus 로고
    • Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease
    • Shoubridge EA, Karpati G, Hastings KEM. Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease. Cell. 1990;62:43-49.
    • (1990) Cell , vol.62 , pp. 43-49
    • Shoubridge, E.A.1    Karpati, G.2    Hastings, K.E.M.3
  • 28
    • 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
  • 29
    • 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
  • 31
    • 0024580556 scopus 로고
    • Decline in skeletal muscle mitochondrial respiratory chain function: Possible factor in ageing
    • Trounce I, Byrne E, Marzuki S. Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing. Lancet. 1989;1:637-639.
    • (1989) Lancet , vol.1 , pp. 637-639
    • Trounce, I.1    Byrne, E.2    Marzuki, S.3
  • 32
    • 0025953999 scopus 로고
    • Leu (UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome
    • Leu (UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology. 1991;41:1663-1664.
    • (1991) Neurology , vol.41 , pp. 1663-1664
    • Ciafaloni, E.1    Ricci, E.2    Servidei, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.