病例报告：一种与快速进展性肌萎缩侧索硬化相关的基因变体。
Case report: A variant of the gene with rapidly progressive amyotrophic lateral sclerosis.
作者信息
Yilihamu Mubalake, Liu Xiaolu, Liu Xiaoxuan, Chen Yong, Fan Dongsheng
机构信息
Department of Neurology, Peking University Third Hospital, Beijing, China.
Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China.
出版信息
Front Neurol. 2022 Aug 24;13:984866. doi: 10.3389/fneur.2022.984866. eCollection 2022.
Heterozygous autosomal-dominant mutations are associated with amyotrophic lateral sclerosis (ALS). Here, we describe a variant of the gene (c.350dupC, p.Asp118GlyfsTer9) in a patient with rapidly progressive ALS that has not previously been reported in ALS or primary lateral sclerosis (PLS) patients before. Our study provides further information on the genotypes and phenotypes of patients with mutations.
杂合常染色体显性突变与肌萎缩侧索硬化症（ALS）相关。在此，我们描述了一名快速进展性ALS患者中该基因的一个变异体（c.350dupC，p.Asp118GlyfsTer9），此前在ALS或原发性侧索硬化症（PLS）患者中尚未有过报道。我们的研究为携带该突变的患者的基因型和表型提供了更多信息。
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