New Mutation in the SOD1 (Copper-Zinc Superoxide Dismutase 1) Gene in A Chinese Amyotrophic Lateral

来源 :The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie | 被引量 : 0次 | 上传用户：lichangsong3

【摘要】

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Objective To investigate the SOD1 gene mutations in patients with sporadic ALS.Methods In this study, we screened for the SOD1 mutations in 51 patients who had been clinically diagnosed with sporadic

【作者】

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Fang Cui Wanshi Cai Zhanjun Wang Yuting Ren Mao Li Zhongsheng Sun Xusheng Huang

【机构】

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Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China

【出处】

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The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie

【发表日期】

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2013年7期

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Objective To investigate the SOD1 gene mutations in patients with sporadic ALS.Methods In this study, we screened for the SOD1 mutations in 51 patients who had been clinically diagnosed with sporadic amyotrophic lateral sclerosis(SALS) using PCR and direct sequencing.Results A novel SOD1 mutation was identified in a female Chinese patient with ALS.A 47-year-old Chinese woman first noticed mild muscle weakness in both lower extremities, with muscle pain andfasciculation in 2009.

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New Mutation in the SOD1 (Copper-Zinc Superoxide Dismutase 1) Gene in A Chinese Amyotrophic Lateral

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