Ontology highlight
ABSTRACT:
SUBMITTER: Quiroga-Carrillo M
PROVIDER: S-EPMC7585666 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Quiroga-Carrillo Manuela M Correa-Arrieta Cristian C Ortiz-Corredor Fernando F Suarez-Obando Fernando F
Case reports in genetics 20201016
Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SC ...[more]