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Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome

OBJECTIVES: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) results from biallelic intronic pentanucleotide repeats in RFC1. We describe an adult male proband with progressive imbalance, cerebellar atrophy, somatosensory neuronopathy, and absence of peripheral...

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Detalles Bibliográficos
Autores principales: King, Katherine Abell, Wegner, Daniel J., Bucelli, Robert C., Shapiro, Jessica, Paul, Alexander J., Dickson, Patricia I., Wambach, Jennifer A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747150/
https://www.ncbi.nlm.nih.gov/pubmed/36524104
http://dx.doi.org/10.1212/NXG.0000000000200036