Chenyu Zhao DongFang Tang Hui Huang Haiyan Tang Yuan Yang Min Yang Yingying Luo Huai Tao Jianguang Tang Xi Zhou Xiaoliu Shi
10.1371/journal.pone.0233017
PLoS One
2020 May 14;15(5):e0233017.
CC BY
https://pubmed.ncbi.nlm.nih.gov/32407401/
Chloride Channels / genetics Hypokalemic Periodic Paralysis / complications Hypokalemic Periodic Paralysis / genetics Myotonia Congenita / complications Myotonia Congenita / genetics NAV1.4 Voltage-Gated Sodium Channel / genetics
Chloride Channels / genetics Hypokalemic Periodic Paralysis / complications Hypokalemic Periodic Paralysis / genetics Myotonia Congenita / complications Myotonia Congenita / genetics NAV1.4 Voltage-Gated Sodium Channel / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Aged Amino Acid Sequence China Chloride Channels / chemistry Chloride Channels / metabolism Consanguinity Conserved Sequence Diagnosis, Differential Exome Sequencing Female HEK293 Cells Humans Hypokalemic Periodic Paralysis / metabolism Male Middle Aged Models, Molecular Mutant Proteins / genetics Mutant Proteins / metabolism Mutation Myotonia Congenita / metabolism NAV1.4 Voltage-Gated Sodium Channel / metabolism Pedigree Recombinant Proteins / genetics Recombinant Proteins / metabolism Young Adult CLC-1 channel Chloride Channels Mutant Proteins NAV1.4 Voltage-Gated Sodium Channel Recombinant Proteins SCN4A protein, human Hypokalemic Periodic Paralysis, Type 2
PMC7224471
32407401
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation
2020