Article
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
Scientific reports - 26 Nov 2019
Thor Michael G, Vivekanandam Vinojini, Sampedro-Castañeda Marisol, Tan S Veronica, Suetterlin Karen, Sud Richa, Durran Siobhan, Schorge Stephanie, Kullmann Dimitri M, Hanna Michael G, Matthews Emma, Männikkö Roope
Abstract excerpt
The sarcolemmal voltage gated sodium channel NaV1.4 conducts the key depolarizing current that drives the upstroke of the skeletal muscle action potential. It contains four voltage-sensing domains (VSDs) that regulate the opening of the pore domain and ensuing permeation of sodium ions. Mutations that lead to increased NaV1.4 currents are found in patients with myotonia or hyperkalaemic periodic paralysis...
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