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

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 …

Fast synaptic communication requires receptors that respond to the presence of
neurotransmitter by opening an ion channel across the post-synaptic membrane. The …

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

Nicotinic ACh receptors (nAChRs) can undergo desensitization, a reversible reduction in
response during sustained agonist application. Although the mechanism of desensitization …

Synaptic receptors respond to neurotransmitters by opening an intrinsic ion channel in the
final step in synaptic transmission. How binding of the neurotransmitter is conveyed over the …

The neuromuscular junction (NMJ) is a complex structure that serves to efficiently
communicate the electrical impulse from the motor neuron to the skeletal muscle to signal …

The synapse is a localized neurohumoral contact between a neuron and an effector cell and
may be considered the quantum of fast intercellular communication. Analogously, the …

The analysis of congenital myasthenic syndromes (CMSs) has disclosed a diverse array of
molecular targets at the motor endplate and has delineated their contribution to synaptic …

Investigation of congenital myasthenic syndromes (CMSs) disclosed a diverse array of
molecular targets at the motor endplate. Clinical, electrophysiologic and morphologic …