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Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease

  作者 Tagliabracci, VS; Girard, JM; Segvich, D; Meyer, C; Turnbull, J; Zhao, XC; Minassian, BA; DePaoli-Roach, AA; Roach, PJ  
  选自 期刊  Journal of Biological Chemistry;  卷期  2008年283-49;  页码  33816-33825  
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[摘要]Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years followed by neurodegeneration and death within 10 years. A characteristic is the widespread formation of poorly branched, insoluble glycogen-like polymers (polyglucosan) kn

 
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