颉满珍;王根绪;

• 1:天水市第一人民医院

摘要(Abstract)：

目的探讨腓骨肌萎缩症(CMT)4B3型的临床特点、神经肌电图及遗传学特点。方法回顾性分析一家系7名成员的临床表现及基因突变情况。结果本家系中患者的临床表现主要为慢性进行性四肢远端肌无力和肌萎缩,腱反射减弱,感觉减退及弓形足;神经肌电图示周围神经广泛的节段性脱髓鞘和髓鞘再生。结论腓骨肌萎缩症遗传方式以常染色体显性遗传为主,也有部分呈常染色体隐性遗传或X连锁显性或隐性遗传。该家系为CMT4B3型,根据二代基因检测,其定位为4B3型,主要致病基因为SBF1。

关键词(KeyWords)： 腓骨肌萎缩症;遗传方式;命名及分型;分子遗传;基因检测;4B3型;SBF1基因

Abstract:

Keywords:

基金项目(Foundation): 天水市科技项目(编号:2019-SHFZKJK-8935)

作者(Authors): 颉满珍;王根绪;

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