CASE REPORT
Andersen-Tawil syndrome – a review of the literature and a case report
Andersen-Tawil syndrome – a review of the literature and a case report
Online publication date: 2008-07-09
Reumatologia 2008;46(3):171-174
KEYWORDS
ABSTRACT
Andersen-Tawil syndrome is a rare form of channelopathy, i.e. disease caused by defective structure and function of the proteins that form the ion channels within the cell membrane. In patients with Andersen-Tawil syndrome, mutations of the KCNJ2 gene result in defective Kir 2.1 protein. The protein forms potassium ion channels. The clinical picture includes periodic muscular weakness occurring after physical exercise, cardiac arrhythmias and dysmorphic features (short stature, hypoplasia of mandible, short fingers and toes).
Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
| eISSN: | 2084-9834 |
| ISSN: | 0034-6233 |
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