en POLSKI
eISSN: 2084-9834
ISSN: 0034-6233
Reumatologia/Rheumatology
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3/2008
vol. 46
 
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abstract:

CASE REPORT
Andersen-Tawil syndrome – a review of the literature and a case report

Anna Kotulska
,
Eugeniusz J. Kucharz

Reumatologia 2008; 46, 3: 171–174
Online publish date: 2008/07/09
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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).
keywords:

Andersen-Tawil syndrome, paroxysmal muscle paralysis







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