The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.

ABSTRACT:

Background

Thyrotoxic periodic paralysis (TPP) is a life-threatening channelopathy manifesting as recurrent episodes of hypokalemia and muscle weakness in the presence of hyperthyroidism. Recent findings indicate defects of inward rectifying K+ (Kir) channels are associated with some TPP patients. The associations are not only found in Caucasian population (mainly Brazilian), but also in Singaporean population. However, potential genetic risk factors for mainland Chinese patients, the largest group of TPP cases in the world, have been largely unexplored.

Methods

Samples of DNA from 127 individuals with TPP and 102 hyperthyroidism male controls self-reported as mainland Chinese were collected from 5 clinical centers from Jan 2011 to Jan 2014. The KCNJ2 gene, KCNJ18 gene, as w

SUBMITTER: Li X 

PROVIDER: S-EPMC4371807 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature