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Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.

作者信息

Tawil R, Ptacek L J, Pavlakis S G, DeVivo D C, Penn A S, Ozdemir C, Griggs R C

机构信息

University of Rochester School of Medicine and Dentistry, Neuromuscular Disease Center, New York.

出版信息

Ann Neurol. 1994 Mar;35(3):326-30. doi: 10.1002/ana.410350313.

DOI:10.1002/ana.410350313
PMID:8080508
Abstract

Andersen's syndrome is a clinically distinct form of potassium-sensitive periodic paralysis associated with cardiac dysrhythmias. The subtle nature of the cardiac and dysmorphic features may delay the recognition of this syndrome and its potentially lethal cardiac dysrhythmias. The genetic defect in Andersen's syndrome is not genetically linked to other forms of potassium-sensitive periodic paralysis and is probably distinct from the long QT syndrome locus.

摘要

相似文献

1
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.
Ann Neurol. 1994 Mar;35(3):326-30. doi: 10.1002/ana.410350313.
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Andersen's syndrome: a distinct periodic paralysis.
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In vivo and in vitro functional characterization of Andersen's syndrome mutations.安德森综合征突变的体内和体外功能特性分析
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[A case of potassium-sensitive periodic paralysis with cardiac dysrhythmia].
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Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.Kir2.x钾通道的异源二聚化导致安德森综合征的表型。
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[Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)].
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[[Andersen syndrome. Description of a case] ].
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Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.皮质类固醇加重安徒生综合征家族中的症状。
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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.Kir2.1基因的突变导致安德森综合征的发育性和发作性电表型。
Cell. 2001 May 18;105(4):511-9. doi: 10.1016/s0092-8674(01)00342-7.
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[Primary periodic paralysis].
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