Andersen-Tawil syndrome - a review of the literature and a case report Zespół Andersen i Tawila - przegląd piśmiennictwa i opis przypadku

Content Provider	Semantic Scholar
Author	Kotulska, Anna Kucharz, Eugeniusz J.
Copyright Year	2008
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). S t r e s z c z e n i e
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Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article