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 …

The neuromuscular junction (NMJ) is a highly specialized synapse between a motor neuron
nerve terminal and its muscle fiber that are responsible for converting electrical impulses …

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

The neuromuscular junction is the chemical synapse between motor neurons and skeletal
muscle fibers. It is designed to reliably convert the action potential from the presynaptic …

Only around 80% of patients with generalized myasthenia gravis (MG) have serum
antibodies to acetylcholine receptor [AChR; acetylcholine receptor antibody positive …

Abstract Objectives Congenital myasthenic syndromes (CMSs) are a genotypically and
phenotypically heterogeneous group of neuromuscular disorders, which have in common an …

The commands that control animal movement are transmitted from motor neurons to their
target muscle cells at the neuromuscular junctions (NMJs). The NMJs contain many protein …

Congenital myasthenia (CM) is a devastating neuromuscular disease, and mutations in
DOK7, an adaptor protein that is crucial for forming and maintaining neuromuscular …

Muscle-specific kinase (MuSK) is essential for each step in neuromuscular synapse
formation. Before innervation, MuSK initiates postsynaptic differentiation, priming the muscle …

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