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Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant
Episodic vestibulocerebellar ataxias are rare diseases, frequently linked to mutations in different ion channels. Our objective in this work was to describe a kindred with episodic vestibular dysfunction and ataxia, associated with a novel CACNA1G variant. Two individuals from successive generations...
Autores principales: | Gazulla, José, Izquierdo-Alvarez, Silvia, Ruiz-Fernández, Emilio, Lázaro-Romero, Alba, Berciano, José |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255690/ https://www.ncbi.nlm.nih.gov/pubmed/34248568 http://dx.doi.org/10.1159/000515974 |
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