A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity.

Nagia FahmyKathrin MüllerPeter Munch AndersenStefan L MarklundMarkus OttoAlbert C LudolphNabila Hamdi

Published in: Journal of neurology (2022)

This novel mutation adds knowledge to the ALS genotype-phenotype spectrum and supports the strong dose-effect of SOD1 mutations associated with severely decreased enzymatic activity.

Keyphrases

amyotrophic lateral sclerosis
healthcare
hydrogen peroxide
early onset
middle aged