A novel phenotype in an Italian family with a rare progranulin mutation

INTRODUCTION: Progranulin (PGRN) is a secreted glycoprotein encoded in humans by the GRN gene, located on chromosome 17q21. Several nonsense and missense pathogenetic GRN mutations have been described. OBJECTIVE: We herein describe two sisters carrying a rare GRN mutation with extremely different cl...

Descripción completa

Detalles Bibliográficos
Autores principales: Russillo, Maria Claudia, Sorrentino, Cristiano, Scarpa, Alfonso, Vinciguerra, Claudia, Cicarelli, Giulio, Cuoco, Sofia, Gagliardi, Monica, Talarico, Mariagrazia, Procopio, Radha, Quattrone, Andrea, Barone, Paolo, Pellecchia, Maria Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Neurological Update
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553792/
https://www.ncbi.nlm.nih.gov/pubmed/35859258
http://dx.doi.org/10.1007/s00415-022-11285-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553792/
https://www.ncbi.nlm.nih.gov/pubmed/35859258
http://dx.doi.org/10.1007/s00415-022-11285-7

Ejemplares similares