Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis

Heterozygous autosomal-dominant FIG4 mutations are associated with amyotrophic lateral sclerosis (ALS). Here, we describe a variant of the FIG4 gene (c.350dupC, p.Asp118GlyfsTer9) in a patient with rapidly progressive ALS that has not previously been reported in ALS or primary lateral sclerosis (PLS...

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Detalles Bibliográficos
Autores principales: Yilihamu, Mubalake, Liu, Xiaolu, Liu, Xiaoxuan, Chen, Yong, Fan, Dongsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9448896/
https://www.ncbi.nlm.nih.gov/pubmed/36090855
http://dx.doi.org/10.3389/fneur.2022.984866

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