CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis

Clinical Case Reports

Ardavan Mashhadian¹  Miriam Marti²  Kamran Imam²  Antonio Liu²  Karen Ip²  Nader Rezkalla³ 

[1] Department of Nephrology California Hospital Medical Center Los Angeles California USA;Department of Neurology Adventist Health White Memorial Los Angeles California USA;Ross University School of Medicine Miramar Florida USA;

关键词: endocrinology;    genetics;    metabolic disorders;    neurology;   

DOI  :  10.1002/ccr3.3054

来源: DOAJ

【 摘 要 】

Abstract It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection until now.

【 授权许可】

Unknown