KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome
β Scribed by Tohru Takahashi; Satoshi Tandai; Tsutomu Toki; Takumi Sato; Shuji Eto; Akira Sato; Tomomi Ueda; Sumito Sato; Kouta Ichinose; Etsuro Ito; Susumu Yonesaka
- Book ID
- 108970952
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 521 KB
- Volume
- 47
- Category
- Article
- ISSN
- 1328-8067
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Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, have been identified in Andersen syndrome (or Andersen-Tawil syndrome), an inherited disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We identified and characterized
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