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Volumn 135, Issue 1, 1996, Pages 81-84

Did de novo MELAS common mitochondrial DNA point mutation (mtDNA 3243, A → G transition) occur in the mother of a proband of a Japanese MELAS pedigree?

Author keywords

Maternal inheritance; MELAS; Mitochondrial encephalomyopathy

Indexed keywords

ADULT; ARTICLE; CASE REPORT; FEMALE; HUMAN; HUMAN TISSUE; LEUKOCYTE; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0030030806     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(95)00272-4     Document Type: Article
Times cited : (16)

References (18)
  • 5
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    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature, 348: 651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 6
    • 0025825012 scopus 로고
    • Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
    • Hasegawa. H., Matsuoka, T., Goto, Y. and Nonaka, I. (1991) Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann. Neurol., 29: 601-605.
    • (1991) Ann. Neurol. , vol.29 , pp. 601-605
    • Hasegawa, H.1    Matsuoka, T.2    Goto, Y.3    Nonaka, I.4
  • 9
    • 0026764974 scopus 로고
    • The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations
    • Kobayashi, Y., Ichihashi, K., Ohta, S., Nihei, K., Kagawa, Y., Yanagisawa, M. and Momoi, M.Y. (1992) The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations. J. Inherit. Metab. Dis., 15: 803-808.
    • (1992) J. Inherit. Metab. Dis. , vol.15 , pp. 803-808
    • Kobayashi, Y.1    Ichihashi, K.2    Ohta, S.3    Nihei, K.4    Kagawa, Y.5    Yanagisawa, M.6    Momoi, M.Y.7
  • 10
    • 0027328501 scopus 로고
    • Leu(3243)) in tissues of symptomatic relatives with MELAS: The role of mitotic segregation
    • Leu(3243)) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology, 43: 1586-1590.
    • (1993) Neurology , vol.43 , pp. 1586-1590
    • Macmillan, C.1    Lach, B.2    Shoubridge, E.A.3
  • 12
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
    • Pavlakis, S.G., Phillips, P.C., DiMauro, S., Devivo, D.C. and Rowland, L.P. (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann. Neurol., 16: 481-488.
    • (1984) Ann. Neurol. , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    DiMauro, S.3    Devivo, D.C.4    Rowland, L.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.