中国人群遗传性周围神经病的致病基因分布
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刘小璇,段晓慧,张朔,孙阿萍,张英爽,樊东升
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Genetic distribution in Chinese patients with hereditary peripheral neuropathy
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Xiao-xuan LIU,Xiao-hui DUAN,Shuo ZHANG,A-ping SUN,Ying-shuang ZHANG,Dong-sheng FAN
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表1 HPN各临床类型的流行病学资料
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Table 1 Epidemiological data of clinical types of HPN
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| Phenotype | n (%) | Age of onset/years | Age of examination/years | Disease course/years | CMTNS-v2 | | HPN | 666 (100) | 24.9±17.6 | 34.3±17.8 | 9.0±9.4 | 11.3±5.3 | | CMT | 495 (74.3) | 24.6±18.0 | 33.4±17.2 | 8.7±9.0 | 12.2±5.6 | | HMN | 107 (16.1) | 25.6±17.0 | 35.4±18.2 | 9.4±9.5 | 8.9±5.0 | | HNPP | 39 (5.9) | 27.6±11.0 | 32.4±12.2 | 4.4±2.5 | 8.4±2.9 | | HSAN | 17 (2.6) | 31.5±11.0 | 38.4±15.2 | 10.4±9.5 | 11.8±9.4 | | FAP | 7 (1.1) | 52 (11-78) | 55 (12-83) | 5.4±2.5 | 16.8±9.5 | | Refsum | 1 | 25 | 35 | 10 | 16 |
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