메뉴 건너뛰기




Volumn 54, Issue 8, 2000, Pages 1693-1696

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency

Author keywords

Cytochrome c oxidase; Mitochondrial DNA; tRNA(Trp)

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TRYPTOPHAN TRANSFER RNA;

EID: 0034009930     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.54.8.1693     Document Type: Article
Times cited : (44)

References (10)
  • 3
    • 0031925719 scopus 로고    scopus 로고
    • A late onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene
    • Silvestri G, Rana M, DiMuzio A, Uncini A, Tonali P, Servidei S. A late onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene. Neuromuscul Disord 1998;8:291-295.
    • (1998) Neuromuscul Disord , vol.8 , pp. 291-295
    • Silvestri, G.1    Rana, M.2    DiMuzio, A.3    Uncini, A.4    Tonali, P.5    Servidei, S.6
  • 4
    • 0019423856 scopus 로고
    • Sequence and organization of human mitochondrial genome
    • Anderson S, Bankier AT, Barrel BG, et al. Sequence and organization of human mitochondrial genome. Nature 1981;290: 522-540.
    • (1981) Nature , vol.290 , pp. 522-540
    • Anderson, S.1    Bankier, A.T.2    Barrel, B.G.3
  • 5
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms
    • Orita M, Iwahana H, Hayashy K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766-2770.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Hayashy, K.3    Sekiya, T.4
  • 7
    • 0028900387 scopus 로고
    • A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological and molecular genetic study
    • Nelson I, Hanna MG, Alsanjari N, Scaravilli F, Morgan-Hughes JA, Harding AE. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological and molecular genetic study. Ann Neurol 1995; 37:400-403.
    • (1995) Ann Neurol , vol.37 , pp. 400-403
    • Nelson, I.1    Hanna, M.G.2    Alsanjari, N.3    Scaravilli, F.4    Morgan-Hughes, J.A.5    Harding, A.E.6
  • 8
    • 0030826380 scopus 로고    scopus 로고
    • Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: Selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNALys mutation in individual neuronal isolates
    • Zhou L, Chomyn A, Attardi G, Miller CA. Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNALys mutation in individual neuronal isolates. J Neurosci 1997;17:7746-7753.
    • (1997) J Neurosci , vol.17 , pp. 7746-7753
    • Zhou, L.1    Chomyn, A.2    Attardi, G.3    Miller, C.A.4
  • 9
    • 0027190874 scopus 로고
    • Clinical features associated with the A to G transition at nucleotide 8344 of mtDNA (MERRF mutation)
    • Silvestri G, Ciafaloni E, Santorelli FMS, et al. Clinical features associated with the A to G transition at nucleotide 8344 of mtDNA (MERRF mutation). Neurology 1993;43:1200-1206.
    • (1993) Neurology , vol.43 , pp. 1200-1206
    • Silvestri, G.1    Ciafaloni, E.2    Santorelli, F.M.S.3
  • 10
    • 0025267548 scopus 로고
    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
    • Holt J, Harding AE, Petty RKH, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;48:428-433.
    • (1990) Am J Hum Genet , vol.48 , pp. 428-433
    • Holt, J.1    Harding, A.E.2    Petty, R.K.H.3    Morgan-Hughes, J.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.