D-DEMØ, a distinct phenotype caused by ATP1A3 mutations

OBJECTIVE: To describe a phenotype caused by ATP1A3 mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø) (D-DEMØ), and neonatal onset. METHODS: Review and analysis o...

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Detalles Bibliográficos
Autores principales: Prange, Lyndsey, Pratt, Milton, Herman, Kristin, Schiffmann, Raphael, Mueller, David M., McLean, Melissa, Mendez, Mary Moya, Walley, Nicole, Heinzen, Erin L., Goldstein, David, Shashi, Vandana, Hunanyan, Arsen, Pagadala, Vijay, Mikati, Mohamad A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413631/
https://www.ncbi.nlm.nih.gov/pubmed/32802951
http://dx.doi.org/10.1212/NXG.0000000000000466

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