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Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations
BACKGROUND: ATP1A3-related disorders include rapid-onset dystonia–parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss). CASE REPORT: We report two cases with intermediate fo...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Columbia University Libraries/Information Services
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578012/ https://www.ncbi.nlm.nih.gov/pubmed/26417536 http://dx.doi.org/10.7916/D8MG7NS8 |