Article
Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.
Muscle & nerve - 1 Dec 2016
Song Jie, Luo Sushan, Cheng Xin, Yue Dongyue, Zhu Wenhua, Lin Jie, Huang Jun, Lu Jiahong, Zhao Chongbo, Qiao Kai
Abstract excerpt
INTRODUCTION: Andersen-Tawil syndrome (ATS) is a rare multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and developmental dysmorphology. There are few reports concerning ATS in the Chinese population. We analyzed clinical features and evaluated the long exercise test as a tool for diagnosis of periodic paralysis in ATS. METHODS: Direct sequencing of KCNJ2 was performed in 12...
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