RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome is a progressive, generally late-onset, neurological disorder associated with biallelic pentanucleotide expansions in Intron 2 of the RFC1 gene. The locus exhibits substantial genetic variability, with multiple pathogenic and benign pen...

Descripción completa

Detalles Bibliográficos
Autores principales: Scriba, Carolin K, Stevanovski, Igor, Chintalaphani, Sanjog R, Gamaarachchi, Hasindu, Ghaoui, Roula, Ghia, Darshan, Henderson, Robert D, Jordan, Nerissa, Winkel, Antony, Lamont, Phillipa J, Rodrigues, Miriam J, Roxburgh, Richard H, Weisburd, Ben, Laing, Nigel G, Deveson, Ira W, Davis, Mark R, Ravenscroft, Gianina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445415/
https://www.ncbi.nlm.nih.gov/pubmed/37621409
http://dx.doi.org/10.1093/braincomms/fcad208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445415/
https://www.ncbi.nlm.nih.gov/pubmed/37621409
http://dx.doi.org/10.1093/braincomms/fcad208

Ejemplares similares