A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21

BACKGROUND AND PURPOSE: Spinocerebellar ataxia 21 (SCA21) is a rare autosomal dominant neurodegenerative disorder caused by TMEM240 gene mutations. To date, SCA21 has been reported only in a limited number of families worldwide. Here, we describe clinical and molecular findings in five additional SC...

Descripción completa

Detalles Bibliográficos
Autores principales: Riso, Vittorio, Galatolo, Daniele, Barghigiani, Melissa, Galosi, Serena, Tessa, Alessandra, Ricca, Ivana, Rossi, Salvatore, Caputi, Caterina, Cioffi, Ettore, Leuzzi, Vincenzo, Casali, Carlo, Santorelli, Filippo M., Silvestri, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8361921/
https://www.ncbi.nlm.nih.gov/pubmed/33851480
http://dx.doi.org/10.1111/ene.14868

Ejemplares similares

Ejemplares similares