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RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy
BACKGROUND: A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving sensory neuropathy at the onset. “Chronic Idiopat...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8505379/ https://www.ncbi.nlm.nih.gov/pubmed/33884451 http://dx.doi.org/10.1007/s00415-021-10552-3 |