Article
Slow progression of amyotrophic lateral sclerosis in a Chinese patient carrying SOD1 p.S135T mutation.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2022
Fu Hanhui, Zhang Kang, Yang Xunzhe, Li Libo, Cui Liying
Abstract excerpt
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...
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