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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...
Enregistré dans:
| Publié dans: | Case Rep Neurol |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
S. Karger AG
2021
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8255690/ https://ncbi.nlm.nih.gov/pubmed/34248568 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000515974 |
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