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Volumn 34, Issue 3, 2006, Pages 235-238

An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; SUCCINATE DEHYDROGENASE;

EID: 33644521249     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2005.08.024     Document Type: Article
Times cited : (18)

References (13)
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  • 2
    • 0000355861 scopus 로고
    • Oxidative phosphorylation disease
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    • J.M. Shottner, D.C. Wallace Oxidative phosphorylation disease C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic and molecular basis of inherited disease 7th ed. 1995 McGraw-Hill, Inc New York 1535 1609
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 1535-1609
    • Shottner, J.M.1    Wallace, D.C.2
  • 4
    • 0034820520 scopus 로고    scopus 로고
    • Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation
    • E.J. Okhuijsen-Kroes, J.M. Trijbels, R.C. Sengers Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation Neuropediatrics 32 2001 183 190
    • (2001) Neuropediatrics , vol.32 , pp. 183-190
    • Okhuijsen-Kroes, E.J.1    Trijbels, J.M.2    Sengers, R.C.3
  • 5
    • 0034768114 scopus 로고    scopus 로고
    • Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation
    • M. Deschauer, T. Muller, T. Wieser, W. Schulte-Mattler, M. Kornhuber, S. Zierz Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation Arch Neurol 58 2001 1885 1888
    • (2001) Arch Neurol , vol.58 , pp. 1885-1888
    • Deschauer, M.1    Muller, T.2    Wieser, T.3    Schulte-Mattler, W.4    Kornhuber, M.5    Zierz, S.6
  • 6
    • 0027280496 scopus 로고
    • Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): Clinical, radiological, pathological, and genetic observations
    • B. Koo, L.E. Becker, S. Chuang Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS) Clinical, radiological, pathological, and genetic observations Ann Neurol 34 1993 25 32
    • (1993) Ann Neurol , vol.34 , pp. 25-32
    • Koo, B.1    Becker, L.E.2    Chuang, S.3
  • 8
    • 0015700086 scopus 로고
    • The occurrence and evolution in the EEG of a lateralized periodic phenomenon
    • M.S. Schwartz, P.F. Prior, D.F. Scott The occurrence and evolution in the EEG of a lateralized periodic phenomenon Brain 96 1973 613 622
    • (1973) Brain , vol.96 , pp. 613-622
    • Schwartz, M.S.1    Prior, P.F.2    Scott, D.F.3
  • 9
    • 0036116752 scopus 로고    scopus 로고
    • Periodic lateralized epileptiform discharges: Etiology, clinical aspects, seizures, and evolution in 130 patients
    • I. Garcia-Morales, M.T. Garcia, L. Galan-Davila Periodic lateralized epileptiform discharges Etiology, clinical aspects, seizures, and evolution in 130 patients J Clin Neurophysiol 19 2002 172 177
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  • 11
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    • Periodic lateralized epileptiform discharges in mitochondrial encephalomyopathy
    • I. Funakawa, T. Yasuda, A. Terao Periodic lateralized epileptiform discharges in mitochondrial encephalomyopathy Electroencephalogr Clin Neurophysiol 103 1997 370 375
    • (1997) Electroencephalogr Clin Neurophysiol , vol.103 , pp. 370-375
    • Funakawa, I.1    Yasuda, T.2    Terao, A.3
  • 12
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    • Epileptic phenotypes associated with mitochondrial disorders
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  • 13
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    • Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.