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Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation

✍ Scribed by Nagase, Satoshi; Kusano, Kengo Fukushima; Yoshida, Masashi; Ohe, Tohru


Book ID
122577359
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
679 KB
Volume
4
Category
Article
ISSN
1547-5271

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Genotype-phenotype correlations of KCNJ2
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Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been