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

BACKGROUND: The dose–effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable insights into ALS pathogenesis with possible therapeutic implications. Homozygous SOD1 mutations, yet scarce, are of special interest. We report a novel homozygous SOD1 mutation with decreased enzymatic...

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Detalles Bibliográficos
Autores principales: Fahmy, Nagia, Müller, Kathrin, Andersen, Peter Munch, Marklund, Stefan L., Otto, Markus, Ludolph, Albert C., Hamdi, Nabila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Short Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971132/
https://www.ncbi.nlm.nih.gov/pubmed/36472686
http://dx.doi.org/10.1007/s00415-022-11489-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971132/
https://www.ncbi.nlm.nih.gov/pubmed/36472686
http://dx.doi.org/10.1007/s00415-022-11489-x

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