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Novel de novo Mutation in the KCNJ2 Gene in a Patient With Andersen-Tawil Syndrome

✍ Scribed by June-Bum Kim; Ki-Wha Chung

Book ID
116825624
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
196 KB
Volume
41
Category
Article
ISSN
0887-8994

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Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome
✍ Yoshisumi Haruna; Atsushi Kobori; Takeru Makiyama; Hidetada Yoshida; Masaharu Ak πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 455 KB

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