一个土耳其家族中由SCN4A基因R672H突变导致的低钾性周期性麻痹。

Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.

作者信息

Incecik Faruk, Hergüner Mihriban Ozlem, Altunbaşak Sakir, Lehman-Horn Frank

机构信息

Division of Pediatric Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.

出版信息

Turk J Pediatr. 2010 Jul-Aug;52(4):409-10.

PMID:21043388

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.

摘要

低钾性周期性麻痹（HypoPP）是一种常染色体显性疾病，其特征为与血钾水平降低相关的发作性肌无力。最近，有报道称编码骨骼肌电压门控钠通道α亚基（SCN4A）的基因突变。我们在一个土耳其HypoPP家族中检测到了R672H突变。