Genotype-phenotype correlations of KCNJ2
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome
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Yoshisumi Haruna; Atsushi Kobori; Takeru Makiyama; Hidetada Yoshida; Masaharu Ak
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Article
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2007
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John Wiley and Sons
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English
β 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