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ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis

BACKGROUND: Rapid-onset dystonia parkinsonism (RDP) is a rare disease caused by ATP1A3 mutation with considerable clinical heterogeneity. Increased knowledge of RDP could be beneficial in its early diagnosis and treatment. OBJECTIVE: This study aimed to summarize the gene mutation spectrum of ATP1A3...

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Detalles Bibliográficos
Autores principales: Yu, Lihua, Peng, Guoping, Yuan, Yuan, Tang, Min, Liu, Ping, Liu, Xiaoyan, Ni, Jie, Li, Yi, Ji, Caihong, Fan, Ziqi, Zhu, Wenli, Luo, Benyan, Ke, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9376385/
https://www.ncbi.nlm.nih.gov/pubmed/35978945
http://dx.doi.org/10.3389/fnagi.2022.933893