Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia

Recently, an intronic biallelic (AAGGG)(n) repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations. As the prevalence of the RFC1 repeat expansion in Dutch cases was unknown, we retrospectively tested 9 putative CANVAS cases and two independent cohor...

Descripción completa

Detalles Bibliográficos
Autores principales: Ghorbani, Fatemeh, de Boer-Bergsma, Jelkje, Verschuuren-Bemelmans, Corien C., Pennings, Maartje, de Boer, Eddy N., Kremer, Berry, Vanhoutte, Els K., de Vries, Jeroen J., van de Berg, Raymond, Kamsteeg, Erik-Jan, van Diemen, Cleo C., Westers, Helga, van de Warrenburg, Bart P., Verbeek, Dineke S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553829/
https://www.ncbi.nlm.nih.gov/pubmed/35864213
http://dx.doi.org/10.1007/s00415-022-11275-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553829/
https://www.ncbi.nlm.nih.gov/pubmed/35864213
http://dx.doi.org/10.1007/s00415-022-11275-9

Ejemplares similares