LRSAM1突变导致的腓骨肌萎缩症2P型1例临床表现及电生理特点并文献复习  

Clinical manifestations and electrophysiological characteristics of Charcot-Marie-Tooth disease type 2P caused by LRSAM1 mutation:a case report and literature review

作　　者：杜红 杨建 林启鹏 唐凌雯 Du Hong;Yang Jian;Lin Qipeng;Tang Lingwen(Department of Neurology,the People's Hospital of Leshan,Leshan City,Sichuan Province,614000,China;Department of Infectious Diseases,the People's Hospital of Leshan,Leshan City,Sichuan Province,614000,China)

机构地区：[1]乐山市人民医院神经内科,四川省乐山市614000 [2]乐山市人民医院感染科,四川省乐山市614000

出　　处：《现代电生理学杂志》2023年第4期255-256,F0003,共3页Journal of Modern Electrophysiology

摘　　要：本文旨在探讨由内含子突变引起的腓骨肌萎缩症2P型(CMT2P)患者的临床及电生理特点。根据患者临床表型及肌电图特点并结合基因测序可以诊断CMT2P型,这有助于新的位点突变的发现,且具有一定临床指导价值。The purpose of this thesis is to discuss the clinical and electrophysiological characters of Charcot-Marie-Tooth disease type 2P(CMT2P)caused by LRSAM1 mutation.CMT2P can be diagnosed according to a combination of patients'clinical manifestation,the characters of electromyography and gene sequencing,which are conductive to the discovery of new site mutation and valuable for clinical practice.

关 键 词：腓骨肌萎缩症 周围神经系统疾病 电生理学 遗传学技术 

分 类 号：R746.4[医药卫生—神经病学与精神病学]