dysferlinopathy的临床、病理及分子生物学研究

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1、授予单位代码10089学号或申请号10010010044中国图书分类号R746.2HebeiMedicalUniversity硕士学位论文专业学位Dysferlinopathy的临床、病理及分子生物学研究研究生：汤锦导师：宋学琴教授专业：神经病学二级学院：河北医科大学第二医院2018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得的研究成果，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、公开和使用。凡发表与学位论文主要内容相关的论文，第一署

2、名为单位河北医科大学，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，承担相应法律责任。研究生签名：导师签章：二级学院领导盖章：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。研究生签名：导师签章：年月日目录中文摘要·································································

3、··············1英文摘要···············································································3英文缩写···············································································6研究论文Dysferlinopathy的临床、病理及分子生物学研究前言·······················································

4、························7材料与方法······································································8结果···············································································13附图···············································································18附表····

5、···········································································25讨论···············································································32结论···············································································37参考文献··························

6、···············································37综述Dysferlinopathy的研究进展···············································40致谢·····················································································57个人简历····························································

7、···················58中文摘要Dysferlinopathy的临床、病理及分子生物学研究摘要目的：综合临床、病理、基因精准诊断Dysferlinopathy以提高认识、减少误诊。方法：收集2014.1~2017.1河北医大二院神经肌肉病实验室病理诊断为dysferlinopathy者共28例，总结临床、病理特点并行基因检测。结果：1.基因检测结果及诊断28例共检出16种基因的82处突变，新发32处。确诊dysferlinopathy13例，LGMD2A型2例；综合临床及病理确诊Dysferlinopathy1例，LGMD

8、2A型1例，BMD1例。仍未能明确者10例。2.综合确诊的Dysferlinopathy的临床、病理及基因突变总结14例均隐匿起病，病程1~30年不等，8~40岁发病，平均25.