RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy

BACKGROUND: A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving sensory neuropathy at the onset. “Chronic Idiopat...

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Detalles Bibliográficos
Autores principales: Tagliapietra, Matteo, Cardellini, Davide, Ferrarini, Moreno, Testi, Silvia, Ferrari, Sergio, Monaco, Salvatore, Cavallaro, Tiziana, Fabrizi, Gian Maria
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/PMC8505379/
https://www.ncbi.nlm.nih.gov/pubmed/33884451
http://dx.doi.org/10.1007/s00415-021-10552-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8505379/
https://www.ncbi.nlm.nih.gov/pubmed/33884451
http://dx.doi.org/10.1007/s00415-021-10552-3

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