Article
The expanding clinical and genetic spectrum of ANO3 dystonia.
Neuroscience letters - 16 Feb 2021
Jiang Li-Ting, Li Li-Xi, Liu Ying, Zhang Xiao-Long, Pan You-Gui, Wang Lin, Wan Xin-Hua, Jin Ling-Jing
Abstract excerpt
INTRODUCTION: Dystonia is a movement disorder with high clinical and genetic heterogeneity. Mutations in Anoctamin-3 (ANO3) gene have been reported to cause dystonia 24 (DYT24). This study aims to clarify the spectrum and frequency of ANO3 rare variants in Chinese populations with primary dystonia and understand the clinical and genetic features of DYT24. METHODS: Sanger sequencing was used to screen all exons...
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