gne肌病临床、病理诊断及鉴别诊断分析

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1、授予单位代码10089議学号或申请号08010010012HebeiMedicalUniversity硕士学位论文专业学位GNE肌病临床、病理诊断及鉴别诊断分析研究生：郭璇导师：胡静教授专业：神经病学2015年3月河北医科大学学位论文使用授权及知识产权归属承诺本学位论文在导师（或指导小组）的指导下，由本人独立完成。本学位论文研究所获的研究成果，其知识产权归河北医科大学所有。河北医科大学有权对本学位论文进行交流、公幵和使用。凡发表与学位论文主要内容相关的论文，第一署名单位为河北医科大学，试验材料、原始数据、申报的专利等知识产权均归河北医科大学所有。否则，承担相应的法律责任。研究生签名

2、导师签章：1二级学院领导签章:%丫年>月>日河北医科大学研究生学位论文独创性声明本论文是在导师指导下进行的研究工作及取得的研究成果，除了文中特别加以标注和致谢等内容外，文中不包含其他人已经发表或撰写的研究成果，指导教师对此进行了审定。本论文由本人独立撰写，文责自负。.乂&年J月勿曰目录中文摘要················································································1英文摘要······························································

3、··················4英文缩写················································································8研究论文GNE肌病临床、病理诊断及鉴别诊断分析前言················································································9材料与方法·······································································9结果·····

4、·········································································17附图··············································································19附表··············································································22讨论·····················································

5、·························25结论··············································································28参考文献········································································29综述GNE肌病临床、病理、分子生物学研究进展·······················33致谢··························································

6、··························43个人简历··············································································44中文摘要GNE肌病临床、病理诊断及鉴别诊断分析摘要目的：GNE肌病是GNE基因变异致尿苷二磷酸-N-乙酰葡糖2-表位酶/N-乙酰甘露糖激酶（uridinediphospho-N-acetylgucosamine2-epimerase/N-acetyl-mannosaminekinase，GNE/MNK）活性下降、肌纤维内唾液酸（sialicacid）合成不足，引

7、起的遗传骨骼肌疾病，呈常染色体隐性。GNE肌病又称伴边缘空泡远端肌病（Distalmyopathywithrimmedvacuoles,DMRV）、遗传性包涵体肌病2型（hereditaryinclusionbodymyopathy，hIBM2）或Nonaka肌病（Nonakamyopathy），基本临床表现：青年/成年早期起病的远端肌无力、肌萎缩，胫骨前肌受累、股四头肌至疾病晚期仍相对保存良好；活检骨骼肌特征性病理改变：边缘空泡（rimmedvacuoles，RV）