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Volumn 68, Issue 17, 2007, Pages 1429-1430

NARP mitochondriopathy: An unusual cause of progressive myoclonic epilepsy

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; VALPROIC ACID;

EID: 34247473345     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000264019.53959.10     Document Type: Article
Times cited : (15)

References (7)
  • 1
    • 15044357259 scopus 로고    scopus 로고
    • Progressive myoclonic epilepsies: A review of genetic and therapeutic aspects
    • Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005;4:239-248.
    • (2005) Lancet Neurol , vol.4 , pp. 239-248
    • Shahwan, A.1    Farrell, M.2    Delanty, N.3
  • 2
    • 0030665556 scopus 로고    scopus 로고
    • Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome
    • Ferlin T, Landrieu P, Rambaud C, et al. Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. J Pediatr 1997;131:447-449.
    • (1997) J Pediatr , vol.131 , pp. 447-449
    • Ferlin, T.1    Landrieu, P.2    Rambaud, C.3
  • 3
    • 0025267548 scopus 로고
    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
    • Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433.
    • (1990) Am J Hum Genet , vol.46 , pp. 428-433
    • Holt, I.J.1    Harding, A.E.2    Petty, R.K.3    Morgan-Hughes, J.A.4
  • 4
    • 0030749664 scopus 로고    scopus 로고
    • Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families
    • Uziel G, Moroni I, Lamantea E, et al. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 1997;63:16-22.
    • (1997) J Neurol Neurosurg Psychiatry , vol.63 , pp. 16-22
    • Uziel, G.1    Moroni, I.2    Lamantea, E.3
  • 5
    • 0027441181 scopus 로고
    • Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation
    • Ortiz RG, Newman NJ, Shoffner JM, Kaufman AE, Koontz DA, Wallace DC. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 1993;111:1525-1530.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1525-1530
    • Ortiz, R.G.1    Newman, N.J.2    Shoffner, J.M.3    Kaufman, A.E.4    Koontz, D.A.5    Wallace, D.C.6
  • 6
    • 0030818636 scopus 로고    scopus 로고
    • Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation
    • Santorelli FM, Tanji K, Shanske S, DiMauro S. Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. Neurology 1997;49:270-273.
    • (1997) Neurology , vol.49 , pp. 270-273
    • Santorelli, F.M.1    Tanji, K.2    Shanske, S.3    DiMauro, S.4
  • 7
    • 0033039431 scopus 로고    scopus 로고
    • The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
    • Parfait B, de Lonlay P, von Kleist-Retzow JC, et al. The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr 1999;158:55-58.
    • (1999) Eur J Pediatr , vol.158 , pp. 55-58
    • Parfait, B.1    de Lonlay, P.2    von Kleist-Retzow, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.