中国人群遗传性周围神经病的致病基因分布

刘小璇,段晓慧,张朔,孙阿萍,张英爽,樊东升

Genetic distribution in Chinese patients with hereditary peripheral neuropathy

Xiao-xuan LIU,Xiao-hui DUAN,Shuo ZHANG,A-ping SUN,Ying-shuang ZHANG,Dong-sheng FAN

表2 可以引起多种临床表型的基因

Table 2 Multiple disease-causing gene with divergent phenotypes

Gene CMT1 CMT2 HMN ALS HSP SMA PMP22 CMT1A, CMT1E, DSS, HNPP MPZ CMT1B, DSS CMT2J HSPB1 CMT2F HMN2B GARS CMT2D HMN5A IGHMBP2 CMT2S HMN6 HSPB8 CMT2L HMN2A KIF5A √ √ √ DCTN1 √ √ FIG4 CMT4J √ MORC2 CMT2Z √ √ DYNC1H1 CMT2O √ SPTLC1 HSAN1 √