메뉴 건너뛰기




Volumn 159, Issue 2, 1998, Pages 170-175

Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: Comparison with the phenotype and the proportion of mutant genome

Author keywords

3243 mutation; Heteroplasmy; Mitochondrial diabetes mellitus; Mitochondrial DNA; Mitochondrial encephalopathy, myopathy, lactic acidosis, and stroke like episodes (MELAS); Single muscle fiber analysis

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0032516823     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(98)00152-X     Document Type: Article
Times cited : (25)

References (21)
  • 1
    • 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. 348:1990;651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 2
    • 0025845270 scopus 로고
    • Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Hess J.F., Parisi M.A., Bennett J.L., Clayton D.A. Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 351:1991;236-239.
    • (1991) Nature , vol.351 , pp. 236-239
    • Hess, J.F.1    Parisi, M.A.2    Bennett, J.L.3    Clayton, D.A.4
  • 3
    • 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. 89:1992;4221-4225.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4221-4225
    • Chomyn, A.1    Martinuzzi, A.2    Yoneda, M.3
  • 4
    • 0026573082 scopus 로고
    • Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
    • Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mol Cell Biol. 12:1992;480-490.
    • (1992) Mol Cell Biol , vol.12 , pp. 480-490
    • King, M.P.1    Koga, Y.2    Davidson, M.3    Schon, E.A.4
  • 5
    • 0026462744 scopus 로고
    • Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
    • Reardon W., Ross R.J.M., Sweeny M.G.et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet. 340:1992;1376-1379.
    • (1992) Lancet , vol.340 , pp. 1376-1379
    • Reardon, W.1    Ross, R.J.M.2    Sweeny, M.G.3
  • 6
    • 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. Nature Genet. 1:1992;368-371.
    • (1992) Nature Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.W.1    Lemkes, H.H.P.J.2    Ruitenbeek, W.3
  • 7
    • 0028328317 scopus 로고
    • A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
    • Kadowaki T., Kadowaki H., Mori Y.et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med. 330:1994;962-968.
    • (1994) N Engl J Med , vol.330 , pp. 962-968
    • Kadowaki, T.1    Kadowaki, H.2    Mori, Y.3
  • 8
    • 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. 100:1990;63-69.
    • (1990) J Neurol Sci , vol.100 , pp. 63-69
    • Goto, Y.1    Koga, Y.2    Horai, S.3    Nonaka, I.4
  • 9
    • 0026708671 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutations
    • Goto Y., Horai S., Matsuoka T.et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutations. Neurology. 42:1992;545-550.
    • (1992) Neurology , vol.42 , pp. 545-550
    • Goto, Y.1    Horai, S.2    Matsuoka, T.3
  • 10
    • 0002609714 scopus 로고
    • Histological and histochemical stains and reactions
    • In Dubowitz V, editor London: Baillire Tindall
    • Dubowitz V. Histological and histochemical stains and reactions. In Dubowitz V, editor. Muscle biopsy. London: Baillire Tindall, 1985, pp. 19-40.
    • (1985) Muscle Biopsy , pp. 19-40
    • Dubowitz, V.1
  • 11
    • 0014311556 scopus 로고
    • Non-droplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB)
    • Seligman A.M., Karnovsky M.J., Wasserkrug H.L., Hanker J.S.V. Non-droplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). J Cell Biol. 38:1968;1-14.
    • (1968) J Cell Biol , vol.38 , pp. 1-14
    • Seligman, A.M.1    Karnovsky, M.J.2    Wasserkrug, H.L.3    Hanker, J.S.V.4
  • 12
    • 0023889215 scopus 로고
    • Variability in the activity of respiratory chain enzymes in mitochondrial myopathies
    • Koga Y., Nonaka I., Sunohara N., Yamanaka R., Kumagai K. Variability in the activity of respiratory chain enzymes in mitochondrial myopathies. Acta Neuropathol. 76:1988;135-141.
    • (1988) Acta Neuropathol , vol.76 , pp. 135-141
    • Koga, Y.1    Nonaka, I.2    Sunohara, N.3    Yamanaka, R.4    Kumagai, K.5
  • 13
    • 0029872652 scopus 로고    scopus 로고
    • Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR
    • In: Attardi AM, Chomyn A, editors Oxford: Academic Press
    • Moraes CT, Schon EA. Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR. In: Attardi AM, Chomyn A, editors. Methods in enzymology, vol. 264. Oxford: Academic Press, 1996, p. 522-41.
    • (1996) Methods in Enzymology , vol.264 , pp. 522-541
    • Moraes, C.T.1    Schon, E.A.2
  • 15
    • 0025825012 scopus 로고
    • Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
    • Hasegawa H., Matsuoka T., Goto Y., Nonaka I. Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol. 29:1991;601-605.
    • (1991) Ann Neurol , vol.29 , pp. 601-605
    • Hasegawa, H.1    Matsuoka, T.2    Goto, Y.3    Nonaka, I.4
  • 16
    • 0026718556 scopus 로고
    • Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): Genetic, biochemical, and morphological correlations in skeletal muscle
    • Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet. 50:1992;934-949.
    • (1992) Am J Hum Genet , vol.50 , pp. 934-949
    • Moraes, C.T.1    Ricci, E.2    Bonilla, E.3    Dimauro, S.4    Schon, E.A.5
  • 17
    • 0028326541 scopus 로고
    • Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243
    • Petruzzella V., Moraes C.T., Sano M.C.et al. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum Mol Genet. 3:1994;449-454.
    • (1994) Hum Mol Genet , vol.3 , pp. 449-454
    • Petruzzella, V.1    Moraes, C.T.2    Sano, M.C.3
  • 18
    • 0028330313 scopus 로고
    • Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
    • Tokunaga M., Mita S., Murakami T.et al. Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Ann Neurol. 35:1994;413-419.
    • (1994) Ann Neurol , vol.35 , pp. 413-419
    • Tokunaga, M.1    Mita, S.2    Murakami, T.3
  • 20
    • 0029816795 scopus 로고    scopus 로고
    • Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
    • Jenuth J.P., Peterson A.C., Fu K., Shoubridge E.A. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nature Genet. 13:1996;146-151.
    • (1996) Nature Genet , vol.13 , pp. 146-151
    • Jenuth, J.P.1    Peterson, A.C.2    Fu, K.3    Shoubridge, E.A.4
  • 21
    • 0030951244 scopus 로고    scopus 로고
    • Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
    • Jenuth J.P., Peterson A.C., Shoubridge E.A. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nature Genet. 16:1997;93-95.
    • (1997) Nature Genet , vol.16 , pp. 93-95
    • Jenuth, J.P.1    Peterson, A.C.2    Shoubridge, E.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.