메뉴 건너뛰기




Volumn 56, Issue 1, 2004, Pages 55-59

Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

EID: 3042523720     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000130475.20571.98     Document Type: Article
Times cited : (10)

References (21)
  • 1
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • Harding AE 1993 Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 2
    • 0029163068 scopus 로고
    • Clinical aspects of hereditary ataxias
    • Subramony SH 1995 Clinical aspects of hereditary ataxias. J Child Neurol 10:353-362
    • (1995) J Child Neurol , vol.10 , pp. 353-362
    • Subramony, S.H.1
  • 5
    • 0029886656 scopus 로고    scopus 로고
    • Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia, and fatal myoclonic epileptic status
    • Van Dornburg PHMF, Gabreëls-Festen AAWM, Gabreëls FM, de Coo R, Ruitenbeek W, Wesseling P, ter Laak H 1996 Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia, and fatal myoclonic epileptic status. Brain 119:997-1010
    • (1996) Brain , vol.119 , pp. 997-1010
    • Van Dornburg, P.H.M.F.1    Gabreëls-Festen, A.A.W.M.2    Gabreëls, F.M.3    De Coo, R.4    Ruitenbeek, W.5    Wesseling, P.6    Ter Laak, H.7
  • 7
    • 84942963644 scopus 로고
    • Determination of lactate, pyruvate, β-hydroxybutyrate and acetoacetate with a centrifugal analyser
    • Artuch R, Vilaseca MA, Farré C, Ramón F 1995 Determination of lactate, pyruvate, β-hydroxybutyrate and acetoacetate with a centrifugal analyser. Eur J Clin Chem Clin Biochem 33:529-533
    • (1995) Eur J Clin Chem Clin Biochem , vol.33 , pp. 529-533
    • Artuch, R.1    Vilaseca, M.A.2    Farré, C.3    Ramón, F.4
  • 8
    • 0033750305 scopus 로고    scopus 로고
    • Oxygen consumption measurement in lymphocytes for the diagnosis of paediatric patients with oxidative phosphorylation diseases
    • Artuch R, Colomé C, Playán A, Alcaine MJ, Briones P, Montoya J, Vilaseca MA, Pineda M 2000 Oxygen consumption measurement in lymphocytes for the diagnosis of paediatric patients with oxidative phosphorylation diseases. Clin Biochem 33:481-485
    • (2000) Clin Biochem , vol.33 , pp. 481-485
    • Artuch, R.1    Colomé, C.2    Playán, A.3    Alcaine, M.J.4    Briones, P.5    Montoya, J.6    Vilaseca, M.A.7    Pineda, M.8
  • 11
    • 0028291367 scopus 로고
    • An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria
    • Birch-Machin MA, Briggs HL, Saborido AA, Bindoff LA, Turnbull DM 1994 An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria. Biochem Med Metab Biol 51:35-42
    • (1994) Biochem Med Metab Biol , vol.51 , pp. 35-42
    • Birch-Machin, M.A.1    Briggs, H.L.2    Saborido, A.A.3    Bindoff, L.A.4    Turnbull, D.M.5
  • 13
  • 15
    • 0031026069 scopus 로고    scopus 로고
    • Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families
    • Ozawa M, Nishino I, Nonaka I, Goto YI 1997 Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families. Muscle Nerve 20:271-278
    • (1997) Muscle Nerve , vol.20 , pp. 271-278
    • Ozawa, M.1    Nishino, I.2    Nonaka, I.3    Goto, Y.I.4
  • 21
    • 0036479866 scopus 로고    scopus 로고
    • Lipoma and sensory neuropathy in mitochondrial diabetes associated with tRNA mutation at position 3271
    • Suzuki Y, Tsukuda K, Taniyama M, Atsumi Y, Matsuoka K, Oka Y 2002 Lipoma and sensory neuropathy in mitochondrial diabetes associated with tRNA mutation at position 3271. Diabetes Care 25:407-408
    • (2002) Diabetes Care , vol.25 , pp. 407-408
    • Suzuki, Y.1    Tsukuda, K.2    Taniyama, M.3    Atsumi, Y.4    Matsuoka, K.5    Oka, Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.