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Volumn 45, Issue 1, 1999, Pages 127-130

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME B; CYTOCHROME C OXIDASE; GLYCINE; MITOCHONDRIAL DNA; MYOGLOBIN; SUCCINATE DEHYDROGENASE; UBIQUINOL CYTOCHROME C REDUCTASE;

EID: 0032929367     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199901)45:1<127::AID-ART20>3.0.CO;2-Y     Document Type: Article
Times cited : (94)

References (8)
  • 1
    • 0002629236 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies
    • Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. Boston: Butterworth-Heinemann
    • DiMauro S, Bonilla E. Mitochondrial encephalomyopathies. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. The molecular and genetic basis of neurological disease, 2nd ed. Boston: Butterworth-Heinemann, 1997:201-235
    • (1997) The Molecular and Genetic Basis of Neurological Disease, 2nd Ed. , pp. 201-235
    • Dimauro, S.1    Bonilla, E.2
  • 2
    • 0030271757 scopus 로고    scopus 로고
    • A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance
    • Dumoulin R, Sagnol I, Ferlin T, et al. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes 1996;10:389-391
    • (1996) Mol Cell Probes , vol.10 , pp. 389-391
    • Dumoulin, R.1    Sagnol, I.2    Ferlin, T.3
  • 3
    • 0031744009 scopus 로고    scopus 로고
    • Missense mutation in the mtDNa cytochrome b gene in a patient with myopathy
    • Andreu AL, Bruno C, Shanske S, et al. Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology 1998;51:1444-1447
    • (1998) Neurology , vol.51 , pp. 1444-1447
    • Andreu, A.L.1    Bruno, C.2    Shanske, S.3
  • 4
    • 0029875973 scopus 로고    scopus 로고
    • Cytochemistry and immunocytochemistry of mitochondria on tissue sections
    • Sciacco M, Bonilla E. Cytochemistry and immunocytochemistry of mitochondria on tissue sections. Methods Enzymol 1996; 264:509-521
    • (1996) Methods Enzymol , vol.264 , pp. 509-521
    • Sciacco, M.1    Bonilla, E.2
  • 5
    • 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 1980; 290:457-465
    • (1980) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 6
    • 0028140454 scopus 로고
    • Distribution of wild type and common deletion forms of mtDNA in normal and respiratory-deficient muscle fibers from patients with mitochondrial myopathy
    • Sciacco M, Bonilla E, Schon EA, et al. Distribution of wild type and common deletion forms of mtDNA in normal and respiratory-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet 1994;3:13-19
    • (1994) Hum Mol Genet , vol.3 , pp. 13-19
    • Sciacco, M.1    Bonilla, E.2    Schon, E.A.3
  • 7
    • 0030975555 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
    • Sobreira C, Hirano M, Shanske S, et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 1998;48:1238-1243
    • (1998) Neurology , vol.48 , pp. 1238-1243
    • Sobreira, C.1    Hirano, M.2    Shanske, S.3
  • 8
    • 0002345378 scopus 로고    scopus 로고
    • Mitochondrial encephalopathy associated with a nonsense mutation in cytochrome b
    • Abstract
    • Kennaway NG, Keightley JA, Burton MD, et al. Mitochondrial encephalopathy associated with a nonsense mutation in cytochrome b. Mol Genet Metab 1998;63:49 (Abstract)
    • (1998) Mol Genet Metab , vol.63 , pp. 49
    • Kennaway, N.G.1    Keightley, J.A.2    Burton, M.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.