메뉴 건너뛰기




Volumn 18, Issue 2, 2011, Pages 290-292

Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis

Author keywords

Cytochrome c oxidase; Deletion; Mitochondrial DNA; Rhabdomyolysis

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

EID: 78651464514     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jocn.2010.06.001     Document Type: Article
Times cited : (18)

References (14)
  • 2
    • 0028609471 scopus 로고
    • Acute peripheral neuropathy, rhabdomyolysis and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation
    • H. Hara, Y. Wakayama, and Y. Kuouno Acute peripheral neuropathy, rhabdomyolysis and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation J Neurol Neurosurg Psychiatry 77 1994 1545 1546
    • (1994) J Neurol Neurosurg Psychiatry , vol.77 , pp. 1545-1546
    • Hara, H.1    Wakayama, Y.2    Kuouno, Y.3
  • 3
    • 0032929367 scopus 로고    scopus 로고
    • A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria
    • A.L. Andreu, C. Bruno, and T.C. Dunne A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria Ann Neurol 45 1999 127 130
    • (1999) Ann Neurol , vol.45 , pp. 127-130
    • Andreu, A.L.1    Bruno, C.2    Dunne, T.C.3
  • 4
    • 0033619147 scopus 로고    scopus 로고
    • Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
    • A.L. Andreu, M.G. Hanna, and H. Reichmann Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA N Engl J Med 341 1999 1037 1044
    • (1999) N Engl J Med , vol.341 , pp. 1037-1044
    • Andreu, A.L.1    Hanna, M.G.2    Reichmann, H.3
  • 5
    • 0033811149 scopus 로고    scopus 로고
    • Recurrent myoglobinuria due to a nonsense mutation in the COX i gene of mitochondrial DNA
    • C.L. Karadimas, P. Greenstein, and C.M. Sue Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA Neurology 55 2000 644 649
    • (2000) Neurology , vol.55 , pp. 644-649
    • Karadimas, C.L.1    Greenstein, P.2    Sue, C.M.3
  • 6
    • 67349197091 scopus 로고    scopus 로고
    • Identification of novel mutations in five patients with mitochondrial encephalomyopathy
    • L. Valente, D. Piga, and E. Lamentea Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochim Biophys Acta 1787 2009 491 501
    • (2009) Biochim Biophys Acta , vol.1787 , pp. 491-501
    • Valente, L.1    Piga, D.2    Lamentea, E.3
  • 7
    • 0347721039 scopus 로고    scopus 로고
    • A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis
    • R. McFarland, R.W. Taylor, and P.F. Chinnery A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis Neuromuscul Disord 14 2004 162 166
    • (2004) Neuromuscul Disord , vol.14 , pp. 162-166
    • McFarland, R.1    Taylor, R.W.2    Chinnery, P.F.3
  • 8
    • 0030003760 scopus 로고    scopus 로고
    • A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglinuria
    • J.A. Keightley, K.C. Hoffbuhr, and M.D. Burton A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglinuria Nat Genet 12 1996 410 415
    • (1996) Nat Genet , vol.12 , pp. 410-415
    • Keightley, J.A.1    Hoffbuhr, K.C.2    Burton, M.D.3
  • 9
    • 28244461616 scopus 로고    scopus 로고
    • Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy
    • R. Horvath, B.G. Schoser, and J. Muller-Hocker Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy Neuromusc Dis 15 2005 851 857
    • (2005) Neuromusc Dis , vol.15 , pp. 851-857
    • Horvath, R.1    Schoser, B.G.2    Muller-Hocker, J.3
  • 10
    • 0031929664 scopus 로고    scopus 로고
    • Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia
    • A. Melberg, E. Holme, and A. Oldfors Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia Neurology 50 1998 299 300
    • (1998) Neurology , vol.50 , pp. 299-300
    • Melberg, A.1    Holme, E.2    Oldfors, A.3
  • 11
    • 0025828342 scopus 로고
    • Mitochondrial DNA deletions in inherited recurrent myoglobinuria
    • K. Ohno, M. Tanaka, and K. Sahashi Mitochondrial DNA deletions in inherited recurrent myoglobinuria Ann Neurol 29 1991 364 369
    • (1991) Ann Neurol , vol.29 , pp. 364-369
    • Ohno, K.1    Tanaka, M.2    Sahashi, K.3
  • 12
    • 0033358741 scopus 로고    scopus 로고
    • A stop-codon mutation in the human mtDNA cytochrome c oxidase i gene disrupts the functional structure of complex IV
    • C. Bruno, A. Martinuzzi, and Y. Tang A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV Am J Hum Genet 65 1999 611 620
    • (1999) Am J Hum Genet , vol.65 , pp. 611-620
    • Bruno, C.1    Martinuzzi, A.2    Tang, Y.3
  • 13
    • 0032231458 scopus 로고    scopus 로고
    • Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA
    • M.G. Hanna, I.P. Nelson, and N.S. Rahman Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA Am J Hum Genet 63 1998 29 36
    • (1998) Am J Hum Genet , vol.63 , pp. 29-36
    • Hanna, M.G.1    Nelson, I.P.2    Rahman, N.S.3
  • 14
    • 0034327415 scopus 로고    scopus 로고
    • A novel frame shift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome
    • V. Tiranti, P. Corona, and M. Greco A novel frame shift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome Hum Mol Genet 9 2000 2733 2742
    • (2000) Hum Mol Genet , vol.9 , pp. 2733-2742
    • Tiranti, V.1    Corona, P.2    Greco, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.