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...

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Detalles Bibliográficos
Autores principales: Termsarasab, Pichet, Yang, Amy C., Frucht, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2015
Materias:
Case Reports
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578012/
https://www.ncbi.nlm.nih.gov/pubmed/26417536
http://dx.doi.org/10.7916/D8MG7NS8

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