Article
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
Human mutation - 1 Feb 2007
Haruna Yoshisumi, Kobori Atsushi, Makiyama Takeru, Yoshida Hidetada, Akao Masaharu, Doi Takahiro, Tsuji Keiko, Ono Seiko, Nishio Yukiko, Shimizu Wataru, Inoue Takehiko, Murakami Tomoaki, Tsuboi Naoya, Yamanouchi Hideo, Ushinohama Hiroya, Nakamura Yoshihide, Yoshinaga Masao, Horigome Hitoshi, Aizawa Yoshifusa, Kita Toru, Horie Minoru
Abstract excerpt
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 identified in patients with ATS. We aimed to clarify the genotype-phenotype correlations in ATS patients. We...
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