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Volumn 16, Issue 12, 2006, Pages 874-877

A novel sporadic mutation G14739A of the mitochondrial tRNAGlu in a girl with exercise intolerance

Author keywords

Mitochondria; Mitochondrial myopathy; mtDNA; tRNA

Indexed keywords

TRANSFER RNA;

EID: 33845188838     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.08.010     Document Type: Article
Times cited : (12)

References (10)
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    • DiMauro, S.1    Hirano, M.2
  • 3
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt I.J., Harding A.E., and Morgan-Hughes J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331 (1988) 717-719
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 6
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    • Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase
    • Mayr J.A., Paul J., Pecina P., Kurnik P., Forster H., Fotschl U., Sperl W., and Houstek J. Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. Pediatr Res 55 (2004) 988-994
    • (2004) Pediatr Res , vol.55 , pp. 988-994
    • Mayr, J.A.1    Paul, J.2    Pecina, P.3    Kurnik, P.4    Forster, H.5    Fotschl, U.6    Sperl, W.7    Houstek, J.8
  • 7
    • 22544462198 scopus 로고    scopus 로고
    • Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations
    • Meierhofer D., Mayr J.A., Ebner S., Sperl W., and Kofler B. Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion 5 (2005) 282-296
    • (2005) Mitochondrion , vol.5 , pp. 282-296
    • Meierhofer, D.1    Mayr, J.A.2    Ebner, S.3    Sperl, W.4    Kofler, B.5
  • 8
    • 0033735040 scopus 로고    scopus 로고
    • Search for characteristic structural features of mammalian mitochondrial tRNAs
    • Helm M., Brule H., Friede D., Giege R., Putz D., and Florentz C. Search for characteristic structural features of mammalian mitochondrial tRNAs. RNA 6 (2000) 1356-1379
    • (2000) RNA , vol.6 , pp. 1356-1379
    • Helm, M.1    Brule, H.2    Friede, D.3    Giege, R.4    Putz, D.5    Florentz, C.6
  • 10
    • 3442897334 scopus 로고    scopus 로고
    • Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes
    • Uusimaa J., Finnila S., Remes A.M., Rantala H., Vainionpaa L., Hassinen I.E., and Majamaa K. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. Pediatrics 114 (2004) 443-450
    • (2004) Pediatrics , vol.114 , pp. 443-450
    • Uusimaa, J.1    Finnila, S.2    Remes, A.M.3    Rantala, H.4    Vainionpaa, L.5    Hassinen, I.E.6    Majamaa, K.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.