CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal
muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis …

In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

The Na V 1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost
all of the inward Na+ current that generates the action potential, but is not present at …

Myotonic dystrophy type 1 (DM1) involves misregulated alternative splicing for specific
genes. We used exon or nucleotide deletion to mimic altered splicing of genes central to …

Malfunctions of voltage-gated sodium and calcium channels (encoded by SCNxA and
CACNA1x family genes, respectively) have been associated with severe neurologic …

Cannabidiol (CBD) is the primary nonpsychotropic phytocannabinoid found in Cannabis
sativa, which has been proposed to be therapeutic against many conditions, including …

The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain‐of‐
function mutations in the SCN4A gene or loss‐of‐function mutations in the CLCN1 gene …

This review integrates from the single muscle fibre to exercising human the current
understanding of the role of skeletal muscle for whole-body potassium (K+) regulation, and …