Abstract

Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. The skeletal muscle calcium channel α-subunit gene CACNA1S is a major disease-causing gene for HypoPP, however, only three specific HypoPP-causing mutations, Arg528His, Arg1,239His and Arg1,239Gly, have been identified in CACNA1S to date. In this study, we studied a four-generation Chinese family with HypoPP with 43 living members and 19 affected individuals. Linkage analysis showed that the causative mutation in the family is linked to the CACNA1S gene with a LOD score of 6.7. DNA sequence analysis revealed a heterozygous C to G transition at nucleotide 1,582, resulting in a novel 1,582C→G (Arg528Gly) mutation. The Arg528Gly mutation co-segregated with all affected individuals in the …

Date

2005

Authors

Qiufen Wang, Mugen Liu, Chunsheng Xu, Zhaohui Tang, Yuhua Liao, Rong Du, Wei Li, Xiaoyan Wu, Xu Wang, Ping Liu, Xianqin Zhang, Jianfang Zhu, Xiang Ren, Tie Ke, Qing Wang, Junguo Yang

Journal

Journal of molecular medicine

Volume

83

Pages

203-208

Publisher

Springer-Verlag