肌萎缩侧索硬化
SOD1
错义突变
医学
突变
萎缩
疾病
内科学
病理
遗传学
生物
基因
作者
Hanhui Fu,Kang Zhang,Xunzhe Yang,Libo Li,Liying Cui
标识
DOI:10.1080/21678421.2021.1912771
摘要
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Most patients die of respiratory failure within 3 years of onset. In this study, we reported a female Chinese ALS patient with SOD1 c.404G > C, p.S135T mutation. The missense mutation was identified as “Likely pathogenic” according to the ACMG/AMP 2015 guideline. The patient presented with weakness and atrophy of lower limbs with slow progression. We reviewed two other reports on patients with the same SOD1 p.S135T mutation. These patients had lower extremity onset, negative Babinski sign, slow disease progression, and prolonged survival. This report indicates that specific phenotype-genotype correlations of SOD1 p.S135T mutation in ALS.
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