ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

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作者： Hikmat, O. ^[1] ; Tzoulis, C. ^[2] ; Knappskog, P. M. ^[3] ; Johansson, S. ^[4] ; Boman, H. ^[5] ; Sztromwasser, P. ^[6] ; Lien, E. ; Brodtkorb, E. ; Ghezzi, D. ; Bindoff, L. A.

作者单位： Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway ^[1] Haukeland Hosp, Dept Paediat, N-5021 Bergen, Norway ^[2] Norwegian Univ Sci & Technol, Dept Neurosci, N-7034 Trondheim, Norway ^[3] Univ Bergen, Dept Clin Med K1, Bergen, Norway ^[4] St Olavs Univ Hosp Trondheim, Dept Paediat, Trondheim, Norway ^[5] Fdn IRCCS Neurol Inst Carlo Besta, Unit Mol Neurogenet, Milan, Italy ^[6]

关键词 ADCK3 ataxia CABC1 coenzyme Q10 epilepsia partialis continua mitochondria POLG stroke-like episodes

发布时间 2017-04-06

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