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Case report of novel CACNA1A gene mutation causing episodic ataxia type 2
BACKGROUND: Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with episodic ataxia type 2, although 30%–50% of a...
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| Publicado no: | SAGE Open Med Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publications
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5431607/ https://ncbi.nlm.nih.gov/pubmed/28540055 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2050313X17706044 |
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