% 0期刊文章% Edoardo糟% Johanna尼尔森%卡罗拉Hedberg-Oldfors %一个Gabriel Viennet Aurelio Hernandez-Lain % %克里斯蒂娜Dominguez-Gonzalez %一个Fabrice米歇尔%哈桑克曼%科妮莉亚Kornblum) %马瑞医生Peter Van den %一诺玛罗梅罗%安德鲁·恩格尔%一个萨尔瓦多DiMauro %安德斯Oldfors % T新的肌肉糖原存储疾病与Glycogenin-1不足2015% (S34.002) % D J神经病学% P S34.002 % V 84% N % X 14补充目的:确定新的基因缺陷与polyglucosan体肌病。首页背景:糖原合成是一个关键的过程导致储存在肌肉组织能源生产所需的碳水化合物。遗传缺陷的重要原因是糖原代谢的障碍被称为糖原存储疾病。许多这些影响肌肉组织。设计/方法:我们描述了七个不相干的成年患者发病缓慢进步的肌病没有心肌病或其他器官参与的迹象。结果:疾病的特点是耐存储部分α淀粉酶高碘酸希夫(PAS)阳性材料在一个大比例的肌肉纤维。这些纤维正常糖原的消耗。组织病理学变化非常相似的分支酶缺乏症RBCK1突变引起的肌病,但遗传调查显示纯合子或复合的杂合突变基因编码的glycogenin-1 (GYG1),这是一种蛋白质auto-glucosylating底漆为糖原合成和存在于糖原颗粒的核心。大多数病人在目前研究显示深刻glycogenin-1枯竭。一个病人显示存在的自由auto-glucosylated glycogenin-1缺乏c端由于删除突变。 The C-terminal of glycogenin-1 binds to glycogen synthase and our results indicate that either depletion of glycogenin-1 or impaired interaction with glycogen synthase underlies this new form of glycogen storage disease. CONCLUSIONS: In summary, we have described a new muscle glycogen storage disorder that is due to deficiency of glycogenin-1, and that binding of glycogen synthase to the C-terminal of glycogenin-1 is essential for glycogen synthase activity. Study Supported by: Supported by a grant 7122, from the Swedish Research Council.Disclosure: Dr. Malfatti has nothing to disclose. Dr. Nilsson has nothing to disclose. Dr. Hedberg-Oldfors has nothing to disclose. Dr. Hernandez-Lain has nothing to disclose. Dr. Viennet has nothing to disclose. Dr. Dominguez-Gonzalez has nothing to disclose. Dr. Michel has nothing to disclose. Dr. Ackman has nothing to disclose. Dr. Kornblum has nothing to disclose. Dr. Van den Bergh has nothing to disclose. Dr. Romero has nothing to disclose. Dr. Engel has nothing to disclose. Dr. DiMauro has received personal compensation in an editorial capacity for MedLink Neurology. Dr. Oldfors has nothing to disclose.Wednesday, April 22 2015, 4:00 pm-5:45 pm %U

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