在散发型腓骨肌萎缩症患者中未检测出LMNA基因突变(英文)

作     者：宋书娟 章远志 陈彪 王曼捷 王越英 张远锦 闫明 Nanbert ZHONG Shu-juan SONG;Yuan-zhi ZHANG;Biao CHEN;Man-jie WANG;Yue-ying WANG;Yuan-jin ZHANG;Ming YAN;Nanbert ZHONG

作者机构：北京大学医学遗传中心 首都医科大学宣武医院神经科 北京大学第三医院神经科 

出 版 物：《北京大学学报（医学版）》 (Journal of Peking University:Health Sciences)

年 卷 期：2006年第38卷第1期

页      面：78-79页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 07[理学] 071007[理学-遗传学] 100204[医学-神经病学] 10[医学] 

基　　金：国家自然科学基金 教育部教育振兴行动计划特殊专项("九八五"工程) "十五"国家科技攻关 国家"211工程"学科建设项目~~ 

主　　题：夏科-马里-图斯病 基因 LMNA 突变 散发型腓骨肌萎缩症 

摘      要：Objective: To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients. Methods: Twelve exons of the LMNA gene were amplified from genetomic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). Results: No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected. Conclusion: The CMT diseases resulted from the mutations of LMNA gene were rare.