Severe distinct dysautonomia in RFC1 ‐related disease associated with Parkinsonism

Biallelic repeat expansions in replication factor C subunit 1 (RFC1) have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Additional features that have been described include Parkinsonism and a multiple system atrophy (MSA)‐like syndrome. CANVAS...

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Detalles Bibliográficos
Autores principales: Record, Christopher J., Alsukhni, Rana Alnasser, Curro, Riccardo, Kaski, Diego, Rubin, John S., Morris, Huw R., Cortese, Andrea, Iodice, Valeria, Reilly, Mary M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092280/
https://www.ncbi.nlm.nih.gov/pubmed/36177974
http://dx.doi.org/10.1111/jns.12515

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092280/
https://www.ncbi.nlm.nih.gov/pubmed/36177974
http://dx.doi.org/10.1111/jns.12515

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