CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) has recently been attributed to biallelic repeat expansions in RFC1. More recently, the disease entity has expanded to atypical phenotypes, including chronic neuropathy without cerebellar ataxia or vestibular areflexia. Very r...

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Detalles Bibliográficos
Autores principales: Hirano, Makito, Kuwahara, Motoi, Yamagishi, Yuko, Samukawa, Makoto, Fujii, Kanako, Yamashita, Shoko, Ando, Masahiro, Oka, Nobuyuki, Nagano, Mamoru, Matsui, Taro, Takeuchi, Toshihide, Saigoh, Kazumasa, Kusunoki, Susumu, Takashima, Hiroshi, Nagai, Yoshitaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584897/
https://www.ncbi.nlm.nih.gov/pubmed/37853169
http://dx.doi.org/10.1038/s41598-023-45011-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584897/
https://www.ncbi.nlm.nih.gov/pubmed/37853169
http://dx.doi.org/10.1038/s41598-023-45011-8

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