Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia

MAPT mutations were the first discovered genetic cause of frontotemporal dementia (FTD) in 1998. Since that time, over 60 MAPT mutations have been identified, usually causing behavioral variant FTD and/or parkinsonism clinically. We describe 2 novel MAPT mutations, D252V and G389_I392del, each prese...

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Detalles Bibliográficos
Autores principales: Shafei, Rachelle, Woollacott, Ione O.C., Mummery, Catherine J., Bocchetta, Martina, Guerreiro, Rita, Bras, Jose, Warren, Jason D., Lashley, Tammaryn, Jaunmuktane, Zane, Rohrer, Jonathan D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082764/
https://www.ncbi.nlm.nih.gov/pubmed/31870644
http://dx.doi.org/10.1016/j.neurobiolaging.2019.11.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082764/
https://www.ncbi.nlm.nih.gov/pubmed/31870644
http://dx.doi.org/10.1016/j.neurobiolaging.2019.11.009

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