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Beyond Dystonia‐Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations
Mutations in the ATP1A3 gene (the α‐3 subunit of the Na(+)/K(+) ATPase) are associated with rapid‐onset dystonia‐parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). The authors report 3 cases...
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| Izdano u: | Mov Disord Clin Pract |
|---|---|
| Glavni autori: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2016
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6178757/ https://ncbi.nlm.nih.gov/pubmed/30363590 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12317 |
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