ATP1A3 Mutation in Adult Rapid-Onset Ataxia

A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase. Several lines of evidence suggest that the variant is causative. ATP1A3 mutations can...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Sweadner, Kathleen J., Toro, Camilo, Whitlow, Christopher T., Snively, Beverly M., Cook, Jared F., Ozelius, Laurie J., Markello, Thomas C., Brashear, Allison
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4798776/
https://ncbi.nlm.nih.gov/pubmed/26990090
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0151429
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