目的对一个显性遗传的腓骨肌萎缩症(CMT)家系进行临床、电生理及病理学研究。方法对先证者及家系所有成员进行体检、5名患者均进行肌电图检查,先证者进行肌活检和腓肠神经活检。结果家系中的患者均有以下肢远为重的肌肉萎缩,均有弓形足,4名患者有双上肢远端肌肉萎缩,无感觉障碍,患者的正中神经传导速度大于38 m/s。腓肠神经提示有髓纤维的数量减少,但无洋葱头样结构。结论该家系显性遗传,但需进一步寻找其致病基因。 Objective To investigate the clinical, electrophysiological and pathological features of a dominant inherited Charcot-Marie-Tooth Syndrome (CMT) pedigree. Methods All the members of probands and their families were examined. Electromyography was performed in all 5 patients, and muscle biopsy and sural nerve biopsy were performed in probands. Results All patients in the pedigrees had the following musculoskeletal atrophy with arcuate foot. Four patients had distal atrophic muscular atrophy and no sensory disturbance. The median nerve conduction velocity was higher than 38 m / s. The sural nerve suggests a reduction in the number of myelinated fibers but no onion-like structure. Conclusion The family is dominantly inherited, but its virulence genes need to be further searched.