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Volumn 38, Issue 2, 2008, Pages 143-146

Clinical and Genetic Features in a MELAS Child With a 3271T>C Mutation

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; UBIDECARENONE;

EID: 38149109128     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2007.09.015     Document Type: Article
Times cited : (14)

References (12)
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  • 2
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    • Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
    • Chinnery P.F., Howell N., Lightowlers R.N., and Turnbull D.M. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120 (1997) 1713-1721
    • (1997) Brain , vol.120 , pp. 1713-1721
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  • 3
    • 14644402355 scopus 로고    scopus 로고
    • Mitochondrial DNA in clinical laboratory diagnostics
    • Wong L.J.C., and Bole S.R. Mitochondrial DNA in clinical laboratory diagnostics. Clin Chim Acta 354 (2005) 1-20
    • (2005) Clin Chim Acta , vol.354 , pp. 1-20
    • Wong, L.J.C.1    Bole, S.R.2
  • 4
    • 17044402928 scopus 로고    scopus 로고
    • Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA
    • Tay S.K., Shanske S., Crowe C., et al. Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA. J Child Neurol 20 (2005) 142-146
    • (2005) J Child Neurol , vol.20 , pp. 142-146
    • Tay, S.K.1    Shanske, S.2    Crowe, C.3
  • 6
    • 0031982608 scopus 로고    scopus 로고
    • Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation
    • Tarnopolsky M.A., Maguire J., Myint T., Applegarth D., and Robinson B.H. Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation. Muscle Nerve 21 (1998) 25-33
    • (1998) Muscle Nerve , vol.21 , pp. 25-33
    • Tarnopolsky, M.A.1    Maguire, J.2    Myint, T.3    Applegarth, D.4    Robinson, B.H.5
  • 7
    • 0036168678 scopus 로고    scopus 로고
    • Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at mitochondrial DNA nucleotide 3271
    • Barišić N., Kleiner I.M., Malčić I., Papa J., and Boranić M. Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at mitochondrial DNA nucleotide 3271. Croat Med J 43 (2002) 37-41
    • (2002) Croat Med J , vol.43 , pp. 37-41
    • Barišić, N.1    Kleiner, I.M.2    Malčić, I.3    Papa, J.4    Boranić, M.5
  • 8
    • 0028109362 scopus 로고
    • A Caucasian family with the 3271 mutation in mitochondrial DNA
    • Marie S.K., Goto Y., Passos-Bueno M.R., et al. A Caucasian family with the 3271 mutation in mitochondrial DNA. Biochem Med Metab Biol 52 (1994) 136-139
    • (1994) Biochem Med Metab Biol , vol.52 , pp. 136-139
    • Marie, S.K.1    Goto, Y.2    Passos-Bueno, M.R.3
  • 9
    • 0027533867 scopus 로고
    • Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: A comparative study
    • Sakuta R., Goto Y., Horai S., and Nonaka I. Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: A comparative study. J Neurol Sci 115 (1993) 158-160
    • (1993) J Neurol Sci , vol.115 , pp. 158-160
    • Sakuta, R.1    Goto, Y.2    Horai, S.3    Nonaka, I.4
  • 10
    • 0027280496 scopus 로고
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  • 11
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    • Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis
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  • 12
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    • Leu(UUR) mutation in a patient with features of MERRF and Kearns-Sayre syndrome
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    • (2003) Neuromuscul Disord , vol.13 , pp. 334-340
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.