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Volumn 61, Issue 8, 2003, Pages 1144-1147

Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0344896708     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000090465.27024.3D     Document Type: Article
Times cited : (26)

References (8)
  • 1
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    • Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA
    • Hanna MG, Nelson IP, Rahman S, et al. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Am J Hum Genet 1998;63:29-36.
    • (1998) Am J Hum Genet , vol.63 , pp. 29-36
    • Hanna, M.G.1    Nelson, I.P.2    Rahman, S.3
  • 2
    • 0037235874 scopus 로고    scopus 로고
    • Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
    • Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann Neurol 2000;53:128-132.
    • (2000) Ann Neurol , vol.53 , pp. 128-132
    • Liolitsa, D.1    Rahman, S.2    Benton, S.3    Carr, L.J.4    Hanna, M.G.5
  • 3
    • 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 1981;290:457-465.
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 4
    • 0029009729 scopus 로고
    • Impaired mitochondrial translation in human myoblasts harbouring the mitochondrialDNA lysine 8344 A→G (MERRF) mutation: Relationship to proportion of mutant mitochondrial DNA
    • Hanna MG, Nelson IP, Morgan-Hughes JA, Harding AE. Impaired mitochondrial translation in human myoblasts harbouring the mitochondrialDNA lysine 8344 A→G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA. J Neurol Sci 1995;130:154-160.
    • (1995) J Neurol Sci , vol.130 , pp. 154-160
    • Hanna, M.G.1    Nelson, I.P.2    Morgan-Hughes, J.A.3    Harding, A.E.4
  • 5
    • 0033619147 scopus 로고    scopus 로고
    • Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
    • Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999;341:1037-1044.
    • (1999) N Engl J Med , vol.341 , pp. 1037-1044
    • Andreu, A.L.1    Hanna, M.G.2    Reichmann, H.3
  • 6
    • 0034010157 scopus 로고    scopus 로고
    • Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo
    • Chinnery PF, Taylor DJ, Brown DT, Manners D, Styles P, Lodi R. Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo. Ann Neurol 2000;47:381-384.
    • (2000) Ann Neurol , vol.47 , pp. 381-384
    • Chinnery, P.F.1    Taylor, D.J.2    Brown, D.T.3    Manners, D.4    Styles, P.5    Lodi, R.6
  • 7
    • 85039626850 scopus 로고    scopus 로고
    • C5545T: A "dominant" mitochondrial DNA mutation?
    • Sacconi S, Salviati L, Nishigaki Y, et al. C5545T: A "dominant" mitochondrial DNA mutation? Neurology 2002;58(suppl 3):A330.
    • (2002) Neurology , vol.58 , Issue.SUPPL. 3
    • Sacconi, S.1    Salviati, L.2    Nishigaki, Y.3
  • 8
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    • Nuclear genetic defects of oxidative phosphorylation
    • Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet 2001;10:2277-2284.
    • (2001) Hum Mol Genet , vol.10 , pp. 2277-2284
    • Shoubridge, E.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.