The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders
caused by abnormal signal transmission at the motor endplate, a special synaptic contact …

Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

Ion channels are membrane proteins that act as gated pathways for the movement of ions
across cell membranes. They play essential roles in the physiology of all cells. In recent …

Throughout the nervous system, moment-to-moment communication relies on postsynaptic
receptors to detect neurotransmitters and change the membrane potential. For the Cys-loop …

During development, motor neurons originating in the brainstem and spinal cord form
elaborate synapses with skeletal muscle fibres. These neurons release acetylcholine (ACh) …

Nicotinic acetylcholine receptors (AChRs) are a family of acetylcholine-gated cation
channels that form the predominant excitatory neurotransmitter receptors on muscles and …

Much progress has been made in the 26 years since initial studies of the first purified
acetylcholine receptors (AChRs) led to the discovery that an antibody‐mediated …

Molecular identification of the genes and resulting protein sequences for a large number of
nicotinic acetylcholine receptor (nAChR) subunits has stimulated numerous studies …

In the nematode Caenorhabditis elegans, cholinergic motor neurons stimulate muscle
contraction as well as activate GABAergic motor neurons that inhibit contraction of the …

Utrophin is a dystrophin-related cytoskeletal protein expressed in many tissues. It is thought
to link F-actin in the internal cytoskeleton to a transmembrane protein complex similar to the …