Andersen-Tawil syndrome associated with myopathy.
作者信息
Wu Lei, Fang Yi, Zhang Bao-Rong
机构信息
Department of Neurology, the Second Affiliated hospital of Zhejiang University School of Medicine, Hangzhou, China.
出版信息
World J Emerg Med. 2020;11(4):267-269. doi: 10.5847/wjem.j.1920-8642.2020.04.012.
Abstract
摘要
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Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.病例报告：一名因新发KCNJ2突变而患有安德森-陶威尔综合征的中国儿童。
J Neurol Sci. 2015 May 15;352(1-2):105-6. doi: 10.1016/j.jns.2015.02.027. Epub 2015 Feb 20.
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6
Andersen-Tawil syndrome presenting as a fixed myopathy.表现为固定性肌病的安德森-陶威尔综合征。
Muscle Nerve. 2013 Oct;48(4):623. doi: 10.1002/mus.23872. Epub 2013 Aug 30.
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Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.与韩国人家族性安徒生综合征相关的KCNJ2基因突变。
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