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Volumn 47, Issue 1, 2009, Pages 20-32

Remodelling of skeletal muscle cells in children with SCO2 gene mutation - Ultrastructural study

Author keywords

Mitochondrial abnormalities; SCO2 mutations; Skeletal muscle; Ultrastructure

Indexed keywords

MITOCHONDRIAL PROTEIN; PROTEIN SCO2; UNCLASSIFIED DRUG; CARRIER PROTEIN; SCO2 PROTEIN, HUMAN;

EID: 65649119366     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (19)
  • 2
    • 0034701251 scopus 로고    scopus 로고
    • Mutations in SCO2 are associated with distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
    • Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA. Mutations in SCO2 are associated with distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet 2000; 9: 795-801.
    • (2000) Hum Mol Genet , vol.9 , pp. 795-801
    • Jaksch, M.1    Ogilvie, I.2    Yao, J.3    Kortenhaus, G.4    Bresser, H.G.5    Gerbitz, K.D.6    Shoubridge, E.A.7
  • 4
    • 84901078288 scopus 로고    scopus 로고
    • Werdnig-Hoffmann phenotype in an infant with common SCO2 gene mutation. Abstracts of 1st PERFECT Workshop on Mitochondrial
    • Kowalski P, Pronicki M, Popowska E, Pronicka E. Werdnig-Hoffmann phenotype in an infant with common SCO2 gene mutation. Abstracts of 1st PERFECT Workshop on Mitochondrial Medicine, 2004; p. 33.
    • (2004) Medicine , pp. 33
    • Kowalski, P.1    Pronicki, M.2    Popowska, E.3    Pronicka, E.4
  • 7
    • 84901171938 scopus 로고    scopus 로고
    • Spinal muscular atrophy-like picture with lactic acidosis, cytochrome c oxidase deficiency and intact survival motor neuron gene. 18th European Congress of Pathology, 8-13 September, 2001, Berlin, Germany
    • Pronicki M, Zaremba J, Karczmarewicz E, Taybert J, Iwanicka K. Spinal muscular atrophy-like picture with lactic acidosis, cytochrome c oxidase deficiency and intact survival motor neuron gene. 18th European Congress of Pathology, 8-13 September, 2001, Berlin, Germany. Virchows Arch 2001; 439: 431-432.
    • (2001) Virchows Arch , vol.439 , pp. 431-432
    • Pronicki, M.1    Zaremba, J.2    Karczmarewicz, E.3    Taybert, J.4    Iwanicka, K.5
  • 18
    • 4644221272 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene
    • Vesela K, Hansikova H, Tesarova M, Martasek P, Elleder M, Houstek J, Zeman J. Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. Acta Paediatr 2004; 93: 1312-1317.
    • (2004) Acta Paediatr , vol.93 , pp. 1312-1317
    • Vesela, K.1    Hansikova, H.2    Tesarova, M.3    Martasek, P.4    Elleder, M.5    Houstek, J.6    Zeman, J.7
  • 19
    • 38849196362 scopus 로고    scopus 로고
    • Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene
    • Vesela K, Hulkova H, Hansikova H, Zeman J, Elleder M. Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene. APMIS 2008; 116: 41-49.
    • (2008) APMIS , vol.116 , pp. 41-49
    • Vesela, K.1    Hulkova, H.2    Hansikova, H.3    Zeman, J.4    Elleder, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.