Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature

TANK-binding kinase 1 (TBK1) mutations are a recently discovered cause of disorders in the frontotemporal dementia (FTD)–amyotrophic lateral sclerosis (ALS) spectrum. We describe a novel L683∗ mutation, predicted to cause a truncated protein and therefore be pathogenic, in a patient presenting with...

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Detalles Bibliográficos
Autores principales: Swift, Imogen J., Bocchetta, Martina, Benotmane, Hanya, Woollacott, Ione OC., Shafei, Rachelle, Rohrer, Jonathan D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Genetic Reports Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907669/
https://www.ncbi.nlm.nih.gov/pubmed/32980182
http://dx.doi.org/10.1016/j.neurobiolaging.2020.08.014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907669/
https://www.ncbi.nlm.nih.gov/pubmed/32980182
http://dx.doi.org/10.1016/j.neurobiolaging.2020.08.014

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