HEK293 Cells Adult SMA Neuromuscular disease Receptors Humans Rare diseases Myotonia congenita Acetylcholinesterase Myotonic Dystrophy Gene Expression Regulation Mexiletine Clinical trial Ca V Longitudinal progression Minigene Cognitive decline Embryo Cercopithecus aethiops Multiple sclerosis Gating pore current Abbreviations CMAP ¼ compound muscle action potential Cell-cell communication Congenital myasthenic syndrome ALS HDAC motor neuron neuromuscular junction reinnervation Congenital myopathy Biological Markers NMJ Butyrylcholinesterase Alzheimer's disease Treatment delay Wnt Amyloid Clinical trials Genetic Association Studies Jonction neuro musculaire Amyotrophic lateral sclerosis Frontotemporal Dementia/genetics HSP70 Heat-Shock Proteins/genetics/metabolism Expression Aging Diseases Animals COVID-19 GFPT1 Neuromuscular junction Precision medicine Epidemiology Congenital myasthenic syndromes 80 and over COS Cells Paramyotonia congenita Database Conduction disease Body Patterning Jonction neuromusculaire Non-dystrophic myotonia Female CMS Experimental disease models Brain Jonction Neuromusculaire NMJ Actin cytoskeleton Calcium channel Acetylcholine receptor clustering Deficiency Distal myopathy Hereditary/genetics CLS Synaptotagmin2 Lithium chloride LRP4 Developmental Chemokines Agrin Amyotrophic Lateral Sclerosis/genetics IL-22 binding protein isoform HypoPP ¼ hypokalaemic periodic paralysis MBNL M3243AG IL22RA2 Motoneuron Cytokines Awareness Drainage Nondystrophic myotonias Disability Hypokalaemic periodic paralysis Aged Cholinergic Mutation Frontotemporal lobar degeneration Autoimmune MuSK Cluster Analysis Acetyltransferase Chloride channel Actionable genes Cell Cycle Proteins/chemistry/genetics/metabolism Knockout mouse Heart failure Dimerization