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目的对65个腓骨肌萎缩症家系先证者进行基因突变检测,并进行临床电生理特点总结。方法应用实时荧光定量PCR、多聚酶链反应-单链构象多态性分析、DNA测序等方法 ,对65个腓骨肌萎缩症家系进行基因突变分析,对明确基因诊断的家系患者进行周围神经电生理特点分析。结果发现18个CMT1A家系,神经传导速度均明显减低(<38m/s);7个CMTX家系,神经传导速度改变不一,可正常或显著减慢,男性患者的神经传导速度下降通常较女性患者为显著;1个CMT4A家系神经传导速度重度减慢;CMT2L家系、CMT2F家系各1个,正中神经运动传导速度减低不明显(>38m/s),复合肌肉动作电位波幅明显降低;CMT1B家系1个,未行周围神经电生理检查。结论在65个临床诊断CMT家系中共确定了6种基因型共29个CMT家系的基因诊断,对CMT先证者及家系内患者的周围神经电生理改变特点的分析可为基因诊断提供指导性信息和发现亚临床症状的患者。
Objective To investigate the gene mutation in 65 pedigrees with pediatric perichondrial muscular dystrophy and summarize the clinical electrophysiological characteristics. Methods The gene mutation analysis of 65 pedigrees with Charcot-Marie-Tooth disease was conducted by real-time fluorescence quantitative PCR, polymerase chain reaction-single strand conformation polymorphism analysis and DNA sequencing. The electrophysiological characteristics of peripheral pediatric patients with definite gene diagnosis analysis. The results showed that all the 18 CMT1A pedigrees had significantly lower nerve conduction velocity (<38m / s). In 7 CMTX pedigrees, the nerve conduction velocities were different and could be normal or significantly slowed down. The decline in nerve conduction velocity in male patients was usually lower than that in female patients (CMT2L family, CMT2F pedigree each one, the median nerve conduction velocity was not significantly reduced (> 38m / s), compound muscle action potential amplitude was significantly reduced; CMT1B pedigree 1 , No peripheral electrophysiological examination. Conclusion The genetic diagnosis of 29 CMT families with 6 genotypes was confirmed in 65 clinically diagnosed CMT pedigrees. The analysis of electrophysiological changes of peripheral nerves in CMT probands and pedigrees may provide guidance information for gene diagnosis And found that patients with subclinical symptoms.