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.
胫骨畸形愈合或萎缩性骨不连可以考虑腓骨截骨辅助治疗。
Fibular osteotomy may be considered as an adjuvant procedure when atrophic nonunion or deformity union of tibia occurs.
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?
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?
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