Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series

Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing lo...

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Detalles Bibliográficos
Autores principales: De Vrieze, Jelena, van de Laar, Ingrid M.B.H., de Rijk-van Andel, Johanneke F., Kamsteeg, Erik-Jan, Kotsopoulos, Irene A.W., de Man, Stella A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573619/
https://www.ncbi.nlm.nih.gov/pubmed/34761051
http://dx.doi.org/10.1177/2329048X211048068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573619/
https://www.ncbi.nlm.nih.gov/pubmed/34761051
http://dx.doi.org/10.1177/2329048X211048068

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