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Volumn 26, Issue 6, 2011, Pages 782-785

Leber's hereditary optic neuropathy mutations associated with infantile-onset myoclonic epilepsy

Author keywords

epilepsy; Leber's hereditary optic neuropathy; mitochondrial DNA mutation; mitochondrial dysfunction; myoclonic seizures

Indexed keywords

ANTICONVULSIVE AGENT; CARNITINE; CLONAZEPAM; CORTICOTROPIN; ETIRACETAM; LAMOTRIGINE; MITOCHONDRIAL DNA; PYRIDOXINE; RIBOFLAVIN; TOPIRAMATE; UBIDECARENONE; UBIQUINOL; UNCLASSIFIED DRUG; VALPROIC ACID; VITAMIN B COMPLEX;

EID: 79957603239     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810391531     Document Type: Article
Times cited : (9)

References (12)
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  • 5
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  • 8
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    • Familial left ventricular hypertrabeculation in two blind brothers
    • DOI 10.1016/S1054-8807(01)00087-4, PII S1054880701000874
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    • Finsterer, J.1    Stollberger, C.2    Michaela, J.3
  • 9
    • 33847234224 scopus 로고    scopus 로고
    • Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation: A case report
    • Grazina MM, Diogo LM, Garcia PC, et al. Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation: a case report. Eur J Paediatr Neurol. 2007 ; 11 (2). 115-118.
    • (2007) Eur J Paediatr Neurol , vol.11 , Issue.2 , pp. 115-118
    • Grazina, M.M.1    Diogo, L.M.2    Garcia, P.C.3
  • 11
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    • Mitochondrial DNA complex i and III mutations associated with Leber's hereditary optic neuropathy
    • Brown MD, Voljavec AS, Lott MT, et al. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992 ; 130: 163-173.
    • (1992) Genetics , vol.130 , pp. 163-173
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3
  • 12
    • 0025003456 scopus 로고
    • A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers
    • Yoneda M., Tanno Y., Horai S., et al. A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. Biochem Int. 1990 ; 21: 789-796. (Pubitemid 20281253)
    • (1990) Biochemistry International , vol.21 , Issue.5 , pp. 789-796
    • Yoneda, M.1    Tanno, Y.2    Horai, S.3    Ozawa, T.4    Miyatake, T.5    Tsuji, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.