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Volumn 41, Issue 1, 2009, Pages 27-33

Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CARBAMAZEPINE; CITRATE SYNTHASE; CLOBAZAM; CLONAZEPAM; CYTOSINE; ETIRACETAM; LACTIC ACID; LAMOTRIGINE; MITOCHONDRIAL DNA; N ACETYLASPARTIC ACID; PHENYTOIN; PROTEIN SUBUNIT; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); STEROID; THIOURACIL; UBIQUINOL CYTOCHROME C REDUCTASE;

EID: 66349098286     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2009.02.010     Document Type: Article
Times cited : (30)

References (24)
  • 2
    • 0029817733 scopus 로고    scopus 로고
    • NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings
    • Pitkänen S., Feigenbaum A., Laframboise R., and Robinson B.H. NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings. J Inherit Metab Dis 19 (1996) 675-686
    • (1996) J Inherit Metab Dis , vol.19 , pp. 675-686
    • Pitkänen, S.1    Feigenbaum, A.2    Laframboise, R.3    Robinson, B.H.4
  • 3
    • 0032490099 scopus 로고    scopus 로고
    • Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect
    • Robinson B.H. Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. Biochim Biophys Acta 1364 (1998) 271-286
    • (1998) Biochim Biophys Acta , vol.1364 , pp. 271-286
    • Robinson, B.H.1
  • 4
    • 0032893995 scopus 로고    scopus 로고
    • Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder
    • Kirby D.M., Crawford M., Cleary M.A., Dahl H.H., Dennett X., and Thorburn D.R. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology 52 (1999) 1255-1264
    • (1999) Neurology , vol.52 , pp. 1255-1264
    • Kirby, D.M.1    Crawford, M.2    Cleary, M.A.3    Dahl, H.H.4    Dennett, X.5    Thorburn, D.R.6
  • 5
    • 0033967568 scopus 로고    scopus 로고
    • Isolated complex I deficiency in children: clinical, biochemical and genetic aspects
    • Loeffen J.L., Smeitink J.A., Trijbels J.M., et al. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 15 (2000) 123-134
    • (2000) Hum Mutat , vol.15 , pp. 123-134
    • Loeffen, J.L.1    Smeitink, J.A.2    Trijbels, J.M.3
  • 6
    • 0034988212 scopus 로고    scopus 로고
    • Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
    • Bénit P., Chretien D., Kadhom N., et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 68 (2001) 1344-1352
    • (2001) Am J Hum Genet , vol.68 , pp. 1344-1352
    • Bénit, P.1    Chretien, D.2    Kadhom, N.3
  • 7
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome
    • Pavlakis S.G., Phillips P.C., DiMauro S., De Vivo D.C., and Rowland L.P. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16 (1984) 481-488
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    DiMauro, S.3    De Vivo, D.C.4    Rowland, L.P.5
  • 8
    • 1642341366 scopus 로고    scopus 로고
    • Mitochondriopathies
    • Finsterer J. Mitochondriopathies. Eur J Neurol 11 (2004) 163-186
    • (2004) Eur J Neurol , vol.11 , pp. 163-186
    • Finsterer, J.1
  • 9
    • 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 348 (1990) 651-653
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 10
    • 0026004614 scopus 로고
    • A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
    • Goto Y., Nonaka I., and Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1097 (1991) 238-240
    • (1991) Biochim Biophys Acta , vol.1097 , pp. 238-240
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 12
    • 33846094306 scopus 로고    scopus 로고
    • An enhanced MITOMAP with a global mtDNA mutational phylogeny
    • Ruiz-Pesini E., Lott M.T., Procaccio V., et al. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 35 database issue (2007) D823-D828
    • (2007) Nucleic Acids Res , vol.35 , Issue.database issue
    • Ruiz-Pesini, E.1    Lott, M.T.2    Procaccio, V.3
  • 13
    • 9144223005 scopus 로고    scopus 로고
    • Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
    • Lebon S., Chol M., Benit P., et al. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet 40 (2003) 896-899
    • (2003) J Med Genet , vol.40 , pp. 896-899
    • Lebon, S.1    Chol, M.2    Benit, P.3
  • 14
    • 11144357770 scopus 로고    scopus 로고
    • A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality
    • Crimi M., Papadimitriou A., Galbiati S., et al. A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. Pediatr Res 55 (2004) 842-846
    • (2004) Pediatr Res , vol.55 , pp. 842-846
    • Crimi, M.1    Papadimitriou, A.2    Galbiati, S.3
  • 15
    • 9144222664 scopus 로고    scopus 로고
    • De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
    • McFarland R., Kirby D.M., Fowler K.J., et al. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol 55 (2004) 58-64
    • (2004) Ann Neurol , vol.55 , pp. 58-64
    • McFarland, R.1    Kirby, D.M.2    Fowler, K.J.3
  • 16
    • 22144483768 scopus 로고    scopus 로고
    • Fulminant neurologic deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene
    • Leshinsky-Silver E., Lev D., Tzofi-Berman Z., et al. Fulminant neurologic deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. Biochem Biophys Res Commun 334 (2005) 582-587
    • (2005) Biochem Biophys Res Commun , vol.334 , pp. 582-587
    • Leshinsky-Silver, E.1    Lev, D.2    Tzofi-Berman, Z.3
  • 17
    • 0034955881 scopus 로고    scopus 로고
    • Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene
    • Taylor R.W., Singh-Kler R., Hayes C.M., Smith P.E., and Turnbull D.M. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol 50 (2001) 104-107
    • (2001) Ann Neurol , vol.50 , pp. 104-107
    • Taylor, R.W.1    Singh-Kler, R.2    Hayes, C.M.3    Smith, P.E.4    Turnbull, D.M.5
  • 18
    • 33644875533 scopus 로고    scopus 로고
    • mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences
    • Ingman M., and Gyllensten U. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res 34 database issue (2006) D749-D751
    • (2006) Nucleic Acids Res , vol.34 , Issue.database issue
    • Ingman, M.1    Gyllensten, U.2
  • 19
    • 0025123850 scopus 로고
    • The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia
    • Robinson B.H., Glerum D.M., Chow W., Petrova-Benedict R., Lightowlers R., and Capaldi R. The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. Pediatr Res 28 (1990) 549-555
    • (1990) Pediatr Res , vol.28 , pp. 549-555
    • Robinson, B.H.1    Glerum, D.M.2    Chow, W.3    Petrova-Benedict, R.4    Lightowlers, R.5    Capaldi, R.6
  • 20
    • 0029985716 scopus 로고    scopus 로고
    • Leigh syndrome: clinical features and biochemical and DNA abnormalities
    • Rahman S., Blok R.B., Dahl H.H., et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39 (1996) 343-351
    • (1996) Ann Neurol , vol.39 , pp. 343-351
    • Rahman, S.1    Blok, R.B.2    Dahl, H.H.3
  • 21
    • 34247478398 scopus 로고    scopus 로고
    • A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency
    • Chae J.H., Lee J.S., Kim K.J., et al. A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. Pediatr Res 61 (2007) 622-624
    • (2007) Pediatr Res , vol.61 , pp. 622-624
    • Chae, J.H.1    Lee, J.S.2    Kim, K.J.3
  • 22
    • 33846008430 scopus 로고    scopus 로고
    • A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia
    • Sarzi E., Brown M.D., Lebon S., et al. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A 143 (2007) 33-41
    • (2007) Am J Med Genet A , vol.143 , pp. 33-41
    • Sarzi, E.1    Brown, M.D.2    Lebon, S.3
  • 23
    • 0030000627 scopus 로고    scopus 로고
    • Clinical and physiological features of epilepsia partialis continua: cases ascertained in the UK
    • Cockerell O.C., Rothwell J., Thompson P.D., Marsden C.D., and Shorvon S.D. Clinical and physiological features of epilepsia partialis continua: cases ascertained in the UK. Brain 119 (1996) 393-407
    • (1996) Brain , vol.119 , pp. 393-407
    • Cockerell, O.C.1    Rothwell, J.2    Thompson, P.D.3    Marsden, C.D.4    Shorvon, S.D.5
  • 24
    • 51049093616 scopus 로고    scopus 로고
    • Identification of the mitochondrial ND3 subunit as a structural component involved in the active/deactive enzyme transition of respiratory complex I
    • Galkin A., Meyer B., Wittig I., et al. Identification of the mitochondrial ND3 subunit as a structural component involved in the active/deactive enzyme transition of respiratory complex I. J Biol Chem 283 (2008) 20907-20913
    • (2008) J Biol Chem , vol.283 , pp. 20907-20913
    • Galkin, A.1    Meyer, B.2    Wittig, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.