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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 &gt; 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.

Slow progression of amyotrophic lateral sclerosis in a Chinese patient carrying SOD1 p.S135T mutation