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Volumn 156, Issue 12, 2000, Pages 1136-1147

MELAS (A3243G) mutation of mitochondrial DNA: A study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data;Mutation «MELAS» (A3243G) de l'ADN mitochondrial: Étude chez 19 patients des relations entre le pheńotype clinique, les données morphologiques et moléculaires

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA; RIBOSOME DNA;

EID: 0034571270     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (41)
  • 4
    • 0026608057 scopus 로고
    • MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4221-4225
    • Chomyn, A.1    Martinuzzi, A.2    Yoneda, M.3
  • 12
    • 0025666322 scopus 로고
    • A mutation in the tRNA-Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 14
    • 0026708671 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutation
    • (1992) Neurology , vol.42 , pp. 545-550
    • Goto, Y.1    Horai, S.2    Matsuoka, T.3
  • 18
    • 0026573082 scopus 로고
    • Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA Leu (UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
    • (1992) Mol Cell Biol , vol.12 , pp. 480-490
    • King, M.P.1    Koga, Y.2    Davidson, M.3    Schon, E.A.4
  • 20
    • 0032231623 scopus 로고    scopus 로고
    • Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
    • (1998) Am J Hum Genet , vol.63 , pp. 447-454
    • Majamaa, K.1    Moilanen, J.S.2    Uimonen, S.3
  • 34
    • 0031985058 scopus 로고    scopus 로고
    • Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders
    • (1998) Hum Mol Genet , vol.7 , pp. 33-42
    • Sternberg, D.1    Danan, C.2    Lombès, A.3
  • 38
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    • (1997) Am J Hum Genet , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.