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Volumn 35, Issue 6, 2013, Pages 582-585

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers

Author keywords

Leigh syndrome; M.8344A>G; MERRF

Indexed keywords

CLONAZEPAM; ETHOSUXIMIDE; MITOCHONDRIAL DNA; VALPROIC ACID;

EID: 84876815263     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.08.006     Document Type: Article
Times cited : (13)

References (10)
  • 1
    • 0028047561 scopus 로고
    • Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy
    • Sweeney M.G., Hammans S.R., Duchen L.W., Cooper J.M., Schapira A.H., Kennedy C.R., et al. Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy. J Neurol Sci 1994, 121:57-65.
    • (1994) J Neurol Sci , vol.121 , pp. 57-65
    • Sweeney, M.G.1    Hammans, S.R.2    Duchen, L.W.3    Cooper, J.M.4    Schapira, A.H.5    Kennedy, C.R.6
  • 2
    • 0027190874 scopus 로고
    • Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA (" MERRF mutation")
    • Silvestri G., Ciafaloni E., Santorelli F.M., Shanske S., Servidei S., Graf W.D., et al. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA (" MERRF mutation"). Neurology 1993, 43:1200-1206.
    • (1993) Neurology , vol.43 , pp. 1200-1206
    • Silvestri, G.1    Ciafaloni, E.2    Santorelli, F.M.3    Shanske, S.4    Servidei, S.5    Graf, W.D.6
  • 3
    • 0024163051 scopus 로고
    • Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
    • Wallace D.C., Zheng X.X., Lott M.T., Shoffiner J.M., Hodge J.A., Kelley R.I., et al. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 1988, 55:601-610.
    • (1988) Cell , vol.55 , pp. 601-610
    • Wallace, D.C.1    Zheng, X.X.2    Lott, M.T.3    Shoffiner, J.M.4    Hodge, J.A.5    Kelley, R.I.6
  • 4
    • 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
  • 5
    • 52049087584 scopus 로고    scopus 로고
    • Leigh and Leigh-like syndrome in children and adults
    • Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 2008, 39:223-235.
    • (2008) Pediatr Neurol , vol.39 , pp. 223-235
    • Finsterer, J.1
  • 8
    • 0025937706 scopus 로고
    • Simple detection of tRNALys mutation in myoclonus epilepsy associated with ragged-red fibers (MERRF) by polymerase chain reaction with a mismatched primer
    • Yoneda M., Tanno Y., Nonaka I., Miyatake T., Tsuji S. Simple detection of tRNALys mutation in myoclonus epilepsy associated with ragged-red fibers (MERRF) by polymerase chain reaction with a mismatched primer. Neurology 1991, 41:1838-1840.
    • (1991) Neurology , vol.41 , pp. 1838-1840
    • Yoneda, M.1    Tanno, Y.2    Nonaka, I.3    Miyatake, T.4    Tsuji, S.5
  • 9
    • 0027373031 scopus 로고
    • Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic numbers of a family
    • Piccolo G., Focher F., Verri A., Spadari S., Banfi P., Gerosa E., et al. Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic numbers of a family. Acta Neurol Scand 1993, 88:406-409.
    • (1993) Acta Neurol Scand , vol.88 , pp. 406-409
    • Piccolo, G.1    Focher, F.2    Verri, A.3    Spadari, S.4    Banfi, P.5    Gerosa, E.6
  • 10
    • 0026566850 scopus 로고
    • Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
    • Tatuch Y., Christodoulou J., Feigenbaum A., Clarke J.T., Wherret J., Smith C., et al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992, 50:852-858.
    • (1992) Am J Hum Genet , vol.50 , pp. 852-858
    • Tatuch, Y.1    Christodoulou, J.2    Feigenbaum, A.3    Clarke, J.T.4    Wherret, J.5    Smith, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.