메뉴 건너뛰기




Volumn 36, Issue 1, 2003, Pages 28-31

Mitochondrial DNA mutation analysis in Leigh syndrome

Author keywords

DNA; Leigh disease; Mitochondrial; Point mutation

Indexed keywords

ARTICLE; CHINESE; CLINICAL ARTICLE; DNA SCREENING; GENE DELETION; GENETIC HETEROGENEITY; HUMAN; LEIGH DISEASE; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SOUTHERN BLOTTING;

EID: 0037465249     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (17)
  • 1
    • 0000376151 scopus 로고
    • Subacute necrotizing encephalomyelopathy in an infant
    • Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry, 1951, 14:216-221.
    • (1951) J Neurol Neurosurg Psychiatry , vol.14 , pp. 216-221
    • Leigh, D.1
  • 2
    • 0029891215 scopus 로고    scopus 로고
    • Genetic heterogeneity in Leigh Syndrome
    • DiMauro S, De Vivo DC. Genetic heterogeneity in Leigh Syndrome. Ann Neurol, 1996, 40:5-7.
    • (1996) Ann Neurol , vol.40 , pp. 5-7
    • DiMauro, S.1    De Vivo, D.C.2
  • 3
    • 0013060778 scopus 로고    scopus 로고
    • Chinese source
  • 4
    • 0013058457 scopus 로고    scopus 로고
    • Chinese source
  • 5
    • 0013159595 scopus 로고    scopus 로고
    • Chinese source
  • 6
    • 8944244529 scopus 로고    scopus 로고
    • Deficiency of respiratory chain complex I is a common cause of Leigh disease
    • Morris AAM, Leonard JV, Brown GK, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol, 1996, 40:25-30.
    • (1996) Ann Neurol , vol.40 , pp. 25-30
    • Morris, A.A.M.1    Leonard, J.V.2    Brown, G.K.3
  • 7
    • 0026566850 scopus 로고
    • Heteroplasmic mtDNA mutation(T to G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
    • Tatuch Y, Christodoulou J, Feigenbaum A, et al. Heteroplasmic mtDNA mutation(T to G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet, 1990, 50:852-858.
    • (1990) Am J Hum Genet , vol.50 , pp. 852-858
    • Tatuch, Y.1    Christodoulou, J.2    Feigenbaum, A.3
  • 8
    • 0034016956 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
    • Makino M, Horai S, Goto Y, et al. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications. J Hum Genet, 2000, 45:69-75.
    • (2000) J Hum Genet , vol.45 , pp. 69-75
    • Makino, M.1    Horai, S.2    Goto, Y.3
  • 9
    • 0028182912 scopus 로고
    • A T→C mutation at nt8993 of mitochondrial DNA in a child with Leigh syndrome
    • Santorelli FM, Shanske S, Jain KD, et al. A T→C mutation at nt8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology, 1994, 44: 972-974.
    • (1994) Neurology , vol.44 , pp. 972-974
    • Santorelli, F.M.1    Shanske, S.2    Jain, K.D.3
  • 10
    • 0030820191 scopus 로고    scopus 로고
    • Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA
    • Campos Y, Martin MA, Rubio JC, et al. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology, 1997, 49:595-597.
    • (1997) Neurology , vol.49 , pp. 595-597
    • Campos, Y.1    Martin, M.A.2    Rubio, J.C.3
  • 12
    • 0029985716 scopus 로고    scopus 로고
    • Leigh syndrome: Clinical features and biochemical and DNA abnormalities
    • Rahman S, Blok RB, Dahl HHM, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol, 1996, 39:343-351.
    • (1996) Ann Neurol , vol.39 , pp. 343-351
    • Rahman, S.1    Blok, R.B.2    Dahl, H.H.M.3
  • 13
    • 0034059135 scopus 로고    scopus 로고
    • Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome
    • Parfait B, Chretien A, Rötig A, et al. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet, 2000, 106:236-243.
    • (2000) Hum Genet , vol.106 , pp. 236-243
    • Parfait, B.1    Chretien, A.2    Rötig, A.3
  • 14
    • 0029162897 scopus 로고
    • An amino acid substitution in the pyruvate dehydrogenase Ela gene, affecting mitochondrial import of the precursor protein
    • Takakubo F, Cartwright P, Hoogenraad N, et al. An amino acid substitution in the pyruvate dehydrogenase Ela gene, affecting mitochondrial import of the precursor protein. Am J Hum Genet, 1995, 57:772-780.
    • (1995) Am J Hum Genet , vol.57 , pp. 772-780
    • Takakubo, F.1    Cartwright, P.2    Hoogenraad, N.3
  • 15
    • 0034062224 scopus 로고    scopus 로고
    • Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
    • Poyau A, Buchet K, Fouad Bouaidi M, et al. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Hum Genet, 2000, 106:194-205.
    • (2000) Hum Genet , vol.106 , pp. 194-205
    • Poyau, A.1    Buchet, K.2    Fouad Bouaidi, M.3
  • 16
    • 0027288377 scopus 로고
    • The mitochondrial DNA transfer RNA (Lys) A to G (8344) mutation and the syndrome of myoclonic epilepsy with ragged-red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
    • Hammans SR, Sweeney MG, Brockington M, et al. The mitochondrial DNA transfer RNA (Lys) A to G (8344) mutation and the syndrome of myoclonic epilepsy with ragged-red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain, 1993, 116:617-632.
    • (1993) Brain , vol.116 , pp. 617-632
    • Hammans, S.R.1    Sweeney, M.G.2    Brockington, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.