Abstract
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness associated with a decrease in blood potassium levels. Recently, mutations in the gene coding for the skeletal muscle voltage-gated sodium channel alpha subunit (SCN4A) have been reported. We detected the R672H mutation in one HypoPP Turkish family.
Copyright and license
Copyright © 2010 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
How to cite
1.
Incecik F, Hergüner MO, Altunbaşak S, Lehman-Horn F. Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family. Turk J Pediatr 2010; 52: 409-410.