显性遗传腓骨肌萎缩症1个家系的临床、电生理和病理学研究  

Clinical,Electrophysiologic and Pathological Study of a Dominant Charcot-MarieTooth Disease Family

作　　者：牛琦[1] 侯作琼[1] 张炳峰[1] 唐金荣[1] 丁新生[1] 

机构地区：[1]南京医科大学第一附属医院,江苏南京210029

出　　处：《实用预防医学》2010年第9期1713-1714,共2页Practical Preventive Medicine

基　　金：江苏省自然科学基金项目(BK2007607)

摘　　要：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 clinically,electrophysiologically and pathologically study a dominant Charcot-Marie-Tooth disease（CMT） family. Methods All the family members received a physical examination.5 patients took electrophysiology.The proband had muscle biopsy and sural nerve biopsy. Results All patients had atropy in distal muscles of the lower limbs and pescavus,4 patients had atropy in distal muscles of the upper limbs,and sensation was intact.The median-nerve conduction velocity of 3 patients were above 38 m/s. Sural nerve biopsy of the proband confirmed that the number of myelinating fibers decreased,and no onion-like structure was found. Conclusions The family represents dominant CMT2,but its gene mutation is unclear.

关 键 词：腓骨肌萎缩症 家系 神经活检 

分 类 号：R394[医药卫生—医学遗传学]