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

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

The convergent endeavors of the neuroscientist to establish a link between clinical
neurology, genetics, loss of function of an important protein, and channelopathies behind …

Congenital myasthenic syndromes (CMSs) are clinically and genetically heterogeneous
disorders characterized by a neuromuscular transmission defect. Even though CMSs are …

Objectives To present phenotype features of a large cohort of congenital myasthenic
syndromes (CMS) and correlate them with their molecular diagnosis. Methods Suspected …

At the neuromuscular junction, the downstream of tyrosine kinase 7 (DOK7) enhances the
phosphorylation of muscle-specific kinase (MuSK) and induces clustering of acetylcholine …

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders,
all of which impair neuromuscular transmission. Epidemiological data and frequencies of …

Congenital myasthenic syndromes comprise heterogeneous genetic diseases characterized
by compromised neuromuscular transmission. Congenital myasthenic syndromes are …

Slow-channel congenital myasthenic syndrome (CMS) is a rare subtype of CMS caused by
dominant “gain of function” mutations in the acetylcholine receptor. Clinically, the cervical …

Congenital myasthenic syndromes (CMS) are a group of inherited diseases that affect
synaptic transmission at the neuromuscular junction and result in fatiguable muscle …