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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...
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| 出版年: | Case Rep Neurol |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2021
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| 主題: | |
| オンライン･アクセス: | 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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