Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
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Incecik F, Herguner MO, Altunbasak S, Lehman-Horn F
Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
Turk J Pediatr. 2010 Jul-Aug;52(4):409-10.
- PubMed ID
- 21043388 [ View in PubMed]
- 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.