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 …

Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal
muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism …

Background Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous
and have traditionally been refractive to genetic diagnosis. The widespread availability of …

Excitation-contraction coupling (ECC) is a physiological process that links excitation of
muscles by the nervous system to their mechanical contraction. In skeletal muscle, ECC is …

Ca V 1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of
skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type …

Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare
genetic disorders caused by mutations in genes encoding ion channel subunits in the …

In skeletal muscle tissue, an intriguing mechanical coupling exists between two ion
channels from different membranes: the L-type voltage-gated calcium channel (Ca V 1.1) …

Excitation-contraction coupling is the signaling process by which action potentials control
calcium release and consequently the force of muscle contraction. Until recently, three triad …

Malignant Hyperthermia (MH) is a rare, hereditary, life-threatening disease triggered by
volatile anesthetics and succinylcholine. Rarely, MH can occur after non-pharmacological …

Background: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM),
periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital …