腓骨肌萎缩，又称Charcot-Marie-Tooth综合征。为累及腓骨肌及其他下肢远端肌肉为主的周围神经遗传病。通常是常染色体显性遗传，少数为隐性遗传。分为脱髓鞘型和轴索型2型。
腓骨肌萎缩症 CMT ; Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth ; peronial myoatrophy
腓骨肌萎缩征 Charcot-Marie-Tooth disease
故又称腓骨肌萎缩症 peroneal myoatrophy
进行性腓骨肌萎缩 Charcot-Marie-Tooth Disease
腓骨肌萎缩症2L型 Charcot-Marie-Tooth disease type 2L
腓骨肌萎缩症2F型 Charcot-Marie-Tooth disease type 2F
性腓骨肌萎缩症 Charcot-Marie-Tooth disease ; CMT
探讨腓骨肌萎缩症 Charot-Marie-Tooth disease ; CMT
研究腓骨肌萎缩症 chareot-Marie-Tooth disease ; CMT
诊断为腓骨肌萎缩症 Charcot-Marie-Tooth disease ; CMT
目的：回顾性分析24例腓骨肌萎缩症的临床与神经电生理特点。
AIM: To retrospectively analyze the clinical and electrophysiological features of the peroneal muscular atrophy PMA in 24 cases.
目的探讨确诊为PMP22大片段重复突变腓骨肌萎缩症（CMT）患者的临床特点。
Objective To analyze the clinical features of CMT patients with PMP22 duplication.
方法采用实时荧光定量PCR检测113个腓骨肌萎缩症家系先证者、4个遗传性压力易感性神经病家系先证者和50名正常人PMP22基因重复或缺失突变。
Methods Duplications or deletions of?PMP22gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR. Results (Thirty-six) of 113 CMT cases had the?
应用推荐