Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree

OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive deterioration of motor function, disability, and death. Variants in the PFN1 gene, encoding the Profilin-1 protein, are related to ALS18. METHODS: We present a pedigree consisting of 3 genera...

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Detalles Bibliográficos
Autores principales: Angelov, Teodor, Chamova, Teodora, Atemin, Slavena, Todorov, Tihomir, Ormandzhiev, Slavko, Tourtourikov, Ivan, Todorova, Albena, Devos, David, Tournev, Ivailo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947785/
https://www.ncbi.nlm.nih.gov/pubmed/36846111
http://dx.doi.org/10.3389/fneur.2023.1094234

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947785/
https://www.ncbi.nlm.nih.gov/pubmed/36846111
http://dx.doi.org/10.3389/fneur.2023.1094234

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