메뉴 건너뛰기




Volumn 8, Issue 3-4, 1998, Pages 149-151

Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome

Author keywords

9176 Mutation; Leigh; Mitochondrial DNA

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA;

EID: 0031803720     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00017-0     Document Type: Article
Times cited : (39)

References (11)
  • 1
    • 0026566850 scopus 로고
    • Heteroplasmic mtDNA mutation (T-to-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
    • Y. Tauch J. Christodoulou A. Feigenbaum Heteroplasmic mtDNA mutation (T-to-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high Am J Hum Genet 50 1992 852 858
    • (1992) Am J Hum Genet , vol.50 , pp. 852-858
    • Tauch, Y.1    Christodoulou, J.2    Feigenbaum, A.3
  • 2
    • 0026808701 scopus 로고
    • Mitochondrial DNA mutation and Leigh's syndrome
    • R. Sakuta Y. Goto S. Horai Mitochondrial DNA mutation and Leigh's syndrome Ann Neurol 32 1992 597 598
    • (1992) Ann Neurol , vol.32 , pp. 597-598
    • Sakuta, R.1    Goto, Y.2    Horai, S.3
  • 3
    • 0027451284 scopus 로고
    • The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
    • F.M. Santorelli S. Shanske A. Macaya D.C. DeVivo S. DiMauro The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome Ann Neurol 34 1993 827 834
    • (1993) Ann Neurol , vol.34 , pp. 827-834
    • Santorelli, F.M.1    Shanske, S.2    Macaya, A.3    DeVivo, D.C.4    DiMauro, S.5
  • 5
    • 0022194596 scopus 로고
    • Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle
    • K. Toshima Y. Kuroda E. Naito Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle Neurology 35 1985 1670 1672
    • (1985) Neurology , vol.35 , pp. 1670-1672
    • Toshima, K.1    Kuroda, Y.2    Naito, E.3
  • 6
    • 0023889215 scopus 로고
    • Variability in the activity of respiratory chain enzymes in mitochondrial myopathies
    • Y. Koga I. Nonaka N. Sunohara R. Yamanaka K. Kumagai Variability in the activity of respiratory chain enzymes in mitochondrial myopathies Acta Neuropathol 76 1988 135 141
    • (1988) Acta Neuropathol , vol.76 , pp. 135-141
    • Koga, Y.1    Nonaka, I.2    Sunohara, N.3    Yamanaka, R.4    Kumagai, K.5
  • 7
    • 19244361945 scopus 로고    scopus 로고
    • mt DNA polymorphism in east Asian populations, with special reference to the Peopling of Japan
    • S. Horai K. Murayama K. Hayasaka mt DNA polymorphism in east Asian populations, with special reference to the Peopling of Japan Am J Hum Genet 59 1996 579 590
    • (1996) Am J Hum Genet , vol.59 , pp. 579-590
    • Horai, S.1    Murayama, K.2    Hayasaka, K.3
  • 8
    • 0029122341 scopus 로고
    • A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
    • D. Thyagarajan S. Shanske M. Vazquez-Memije D. DeVivo S. DiMauro A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis Ann Neurol 38 1995 468 472
    • (1995) Ann Neurol , vol.38 , pp. 468-472
    • Thyagarajan, D.1    Shanske, S.2    Vazquez-Memije, M.3    DeVivo, D.4    DiMauro, S.5
  • 9
    • 0028810803 scopus 로고
    • Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
    • L. De Meirleir S. Seneca W. Lissens E. Schoentjes B. Desprechins Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene Pediatr Neurol 13 1995 242 246
    • (1995) Pediatr Neurol , vol.13 , pp. 242-246
    • De Meirleir, L.1    Seneca, S.2    Lissens, W.3    Schoentjes, E.4    Desprechins, B.5
  • 10
    • 0030820191 scopus 로고    scopus 로고
    • Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA
    • Y. Campos M.A. Martin J.C. Rubio Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA Neurology 49 1997 595 597
    • (1997) Neurology , vol.49 , pp. 595-597
    • Campos, Y.1    Martin, M.A.2    Rubio, J.C.3
  • 11
    • 0028894410 scopus 로고
    • Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs
    • S. Horai K. Hayasaka R. Kondo Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs Proc Natl Acad Sci USA 92 1995 532 536
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 532-536
    • Horai, S.1    Hayasaka, K.2    Kondo, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.