在散发型腓骨肌萎缩症患者中未检测出LMNA基因突变(英文)

Objective: To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients. Methods: Twelve exons of the LMNA gene were amplified from genetomic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). Results: No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected. Conclusion: The CMT diseases resulted from the mutations of LMNA gene were rare.

基因突变致散发型腓骨肌萎缩症并2型糖尿病1例

腓骨肌萎缩症（Charcot-Marie-Tooth，CMT）是神经系统遗传性周围神经病最常见的类型，患病率约为1／2500其遗传方式主要是常染色体显性遗传、常染色体隐形、X连锁传及散发性；主要临床表现为进行性对称性远端肌无力和肌萎缩、腱反射减弱或消失、远端感觉减退。