A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively....
Description complète
Détails bibliographiques
Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 55(2017), 4 vom: 02. Apr., Seite 288-293
|
Auteur principal: |
Zhang, C L
(Auteur) |
Autres auteurs: |
Yin, F,
He, F,
Gai, N,
Shi, Z Q,
Peng, J |
Format: | Article en ligne
|
Langue: | Chinese |
Publié: |
2017
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Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics
|
Sujets: | Case Reports
Journal Article
Review
Child, preschool
Dystonic disorders
Gene
Mutation
ATP1A3 protein, human
Sodium-Potassium-Exchanging ATPase
EC 7.2.2.13 |