论文部分内容阅读
进行性神经性腓骨肌萎缩(CMT)是外周神经病变最为常见的原因,发病率1/2 500。1A型进行性神经性腓骨肌萎缩(AMT 1A)是常染色体显性遗传疾病,以外周肢端肌肉萎缩和无力以及神经传导速度下降为特点。超过98％的CMT 1A病例是由于17p 12上的一段15 Mb重迭引起。通过17p染色体的重排,有明确的证据表明,这种重迭导致位于17p 12上的PMP 22基因的过度表达,从而引起CMT 1A的表现型。以前,作者报道采用荧光原位杂交技术(FISH)可以检测到超过98％的CMT 1A型患者,有17p
Progressive neurofibrillary atrophy (CMT) is the most common cause of peripheral neuropathy, with an incidence of 1/2 500.1A progressive neurofibrillary muscular atrophy (AMT 1A), an autosomal dominant genetic disorder characterized by peripheral peripheral limbs Muscle atrophy and weakness as well as decreased nerve conduction velocity is characterized. Over 98% of CMT1A cases are due to a 15 Mb overlap on 17p12. Through the rearrangement of the 17p chromosome, there is clear evidence that this overlap results in overexpression of the PMP 22 gene located on 17p 12, causing the phenotype of CMT 1A. Previously, the authors reported that more than 98% of patients with CMT type 1A can be detected by fluorescence in situ hybridization (FISH), with 17p