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 …

Two-dimensional (2D) human skeletal muscle fiber cultures are ill-equipped to support the
contractile properties of maturing muscle fibers. This limits their application to the study of …

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 …

Background There are limited reports of the use of whole exome sequencing (WES) as a
clinical diagnostic tool. Moreover, there are no reports addressing the cost burden …

It is over forty years since the major neurotransmitters and their protein receptors were
identified, and over twenty years since determination of the first amino-acid sequences of the …

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 …

Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired
neuromuscular transmission. This review provides an overview on CMS and highlights …