Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3.

Parkinsonism & Related Disorders(2020)

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摘要
ATP1A3-related dystonia is a disorder with high heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 gene. Here, 2 atypical cases carring 2 de-novo ATP1A3 variants with RDP-CAPOS overlapping phenotype or continuous hemi-dystonia are described.
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关键词
ATP1A3,Dystonia,Phenotypes
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