Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

INTRODUCTION: Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development. METHODS:...

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Detalles Bibliográficos
Autores principales: De Michele, Giovanna, Galatolo, Daniele, Galosi, Serena, Mignarri, Andrea, Silvestri, Gabriella, Casali, Carlo, Leuzzi, Vincenzo, Ricca, Ivana, Barghigiani, Melissa, Tessa, Alessandra, Cioffi, Ettore, Caputi, Caterina, Riso, Vittorio, Dotti, Maria Teresa, Saccà, Francesco, De Michele, Giuseppe, Cocozza, Sirio, Filla, Alessandro, Santorelli, Filippo M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857164/
https://www.ncbi.nlm.nih.gov/pubmed/34292398
http://dx.doi.org/10.1007/s00415-021-10712-5

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