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Volumn 19, Issue 2, 1996, Pages 187-190

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNALeu(UUR) mutation of mitochondrial DNA

Author keywords

Maternal inheritance; MELAS; MERRF; Mitochondrial DNA; Mitochondrial myopathy

Indexed keywords

CITRATE SYNTHASE; CREATINE KINASE; CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; SUCCINATE DEHYDROGENASE; TRANSFER RNA;

EID: 0030031395     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199602)19:2<187::AID-MUS10>3.0.CO;2-S     Document Type: Article
Times cited : (48)

References (16)
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  • 2
    • 0024270364 scopus 로고
    • Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies
    • Byrne E, Trounce I, Dennet X, Gilligan B, Morley JB, Marzuki S: Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies. J Neurol Sci 1992;88:327-337.
    • (1992) J Neurol Sci , vol.88 , pp. 327-337
    • Byrne, E.1    Trounce, I.2    Dennet, X.3    Gilligan, B.4    Morley, J.B.5    Marzuki, S.6
  • 4
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    • Mitochondrial encephalomyopathies
    • DiMauro S, Moraes CT: Mitochondrial encephalomyopathies. Arch Neurol 1993;50:1197-1208.
    • (1993) Arch Neurol , vol.50 , pp. 1197-1208
    • DiMauro, S.1    Moraes, C.T.2
  • 7
    • 0022121148 scopus 로고
    • Stroke-like episodes in MERRF
    • Fukuhara N: Stroke-like episodes in MERRF. Ann Neurol 1985;18:368.
    • (1985) Ann Neurol , vol.18 , pp. 368
    • Fukuhara, N.1
  • 8
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348: 651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 9
    • 0026004614 scopus 로고
    • A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
    • Goto Y, Nonaka I, Horai S: A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1991; 1097:238-240.
    • (1991) Biochim Biophys Acta , vol.1097 , pp. 238-240
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 11
    • 0026718556 scopus 로고
    • Leu(UUR) mutation in MELAS: Genetic, biochemical and morphological correlations in skeletal muscle
    • Leu(UUR) mutation in MELAS: genetic, biochemical and morphological correlations in skeletal muscle. Am J Hum Genet 1992;50:934-949.
    • (1992) Am J Hum Genet , vol.50 , pp. 934-949
    • Moraes, C.T.1    Ricci, E.2    Bonilla, E.3    DiMauro, S.4    Schon, E.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.