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Volumn 145, Issue 2, 1997, Pages 155-162

Developmental genetics of deleted mtDNA in mitochondrial oculomyopathy

Author keywords

embryonic tissue distribution; human mtDNA; mitochondrial disorder; mtDNA deletion; mtDNA heteroplasmy

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0030986993     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(96)00241-9     Document Type: Article
Times cited : (14)

References (29)
  • 6
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt I.J., Harding A.E., Morgan-Hughes J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 331:1988;717-719.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 7
    • 0024798264 scopus 로고
    • Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
    • Holt I.J., Harding A.E., Cooper J.M., Schapira A.H.V., Toscano A., Clark J.B., Morgan-Hughes J.A. Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann. Neurol. 26:1989;699-708.
    • (1989) Ann. Neurol. , vol.26 , pp. 699-708
    • Holt, I.J.1    Harding, A.E.2    Cooper, J.M.3    Schapira, A.H.V.4    Toscano, A.5    Clark, J.B.6    Morgan-Hughes, J.A.7
  • 10
    • 0023877476 scopus 로고
    • Kearns Sayre syndrome with muscle mitochondrial DNA deletion.
    • Lestienne, P., Ponsot, G. (1988) Kearns Sayre syndrome with muscle mitochondrial DNA deletion. Lancet i, 885.
    • (1988) Lancet , vol.1 , pp. 885
    • Lestienne, P.1    Ponsot, G.2
  • 11
    • 0026409821 scopus 로고
    • Normal variants of human mitochondrial DNA and translation products: The building of reference data base
    • Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E. Normal variants of human mitochondrial DNA and translation products: the building of reference data base. Hum. Genet. 88:1991;139-145.
    • (1991) Hum. Genet. , vol.88 , pp. 139-145
    • Marzuki, S.1    Noer, A.S.2    Lertrit, P.3    Thyagarajan, D.4    Kapsa, R.5    Utthanaphol, P.6    Byrne, E.7
  • 14
    • 0025373850 scopus 로고
    • Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: Implications for pathogenesis
    • Nakase H., Moraes C.T., Rizzuto R., Lombes A., DiMauro S., Schon E.A. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am. J. Hum. Genet. 46:1990;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
  • 18
    • 0025330764 scopus 로고
    • Kearns-Sayre syndrome: Different amounts of deleted mitochondrial DNA are present in several autoptic tissues
    • Ponzetto C., Bresolin N., Bordoni A., Moggio M., Meola G., Bet L., Prelle A., Scarlato G. Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues. J. Neurol. Sci. 96:1990;207-210.
    • (1990) J. Neurol. Sci. , vol.96 , pp. 207-210
    • Ponzetto, C.1    Bresolin, N.2    Bordoni, A.3    Moggio, M.4    Meola, G.5    Bet, L.6    Prelle, A.7    Scarlato, G.8
  • 22
    • 0024596946 scopus 로고
    • A direct repeat is a hotspot for large scale deletion of human mitochondrial DNA
    • Schon E.A., Rizzuto R., Moraes C.T., Nakase H., Zeviani M., DiMauro S. A direct repeat is a hotspot for large scale deletion of human mitochondrial DNA. Science. 244:1989;346-349.
    • (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
    • 0024317560 scopus 로고
    • Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial deletion: A slip-replication model and metabolic therapy
    • Shoffner J.M., Lott M.T., Voliavec A.S., Soueidan S.A., Costigan D.A., Wallace D.C. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial deletion: A slip-replication model and metabolic therapy. Proc. Natl. Acad. Sci. USA. 86:1989;7952-7956.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 7952-7956
    • Shoffner, J.M.1    Lott, M.T.2    Voliavec, A.S.3    Soueidan, S.A.4    Costigan, D.A.5    Wallace, D.C.6
  • 25
    • 0016700864 scopus 로고
    • Detection of specific sequences among DNA fragments separated by gel electrophoresis
    • Southern E.M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol. 98:1975;504-517.
    • (1975) J. Mol. Biol. , vol.98 , pp. 504-517
    • Southern, E.M.1
  • 27
    • 0026012137 scopus 로고
    • Functional respiratory chain studies in subject with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions
    • Trounce I., Byrne E., Dennet X., Mastaglia F., Berkovic S.F., Marzuki S. Functional respiratory chain studies in subject with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions. J. Neurol. Sci. 102:1991;92-99.
    • (1991) J. Neurol. Sci. , vol.102 , pp. 92-99
    • Trounce, I.1    Byrne, E.2    Dennet, X.3    Mastaglia, F.4    Berkovic, S.F.5    Marzuki, S.6
  • 29
    • 0026532722 scopus 로고
    • Multiple mitochondrial DNA deletions in an elderly human individual
    • Zhang C., Baumer A., Maxwell R.J., Linnane A.W., Nagley P. Multiple mitochondrial DNA deletions in an elderly human individual. FEBS Lett. 297:1994;34-38.
    • (1994) FEBS Lett. , vol.297 , pp. 34-38
    • Zhang, C.1    Baumer, A.2    Maxwell, R.J.3    Linnane, A.W.4    Nagley, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.