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 …

Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety
margin of neuromuscular transmission is compromised by one or more specific …

The diagnostic and referral workflow for children with neuromuscular disorders is evolving,
particularly as newborn screening programs are expanding in tandem with novel therapeutic …

Background: Congenital myasthenic syndrome is a group of rare genetic disorders affecting
transmission across the neuromuscular junction. Patients present with variable ocular …

Abstract Choline acetyltransferase (ChAT; EC 2.3. 1.6) catalyzes synthesis of acetylcholine
from acetyl‐CoA (AcCoA) and choline in cholinergic neurons. Mutations in CHAT cause …

Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited
neuromuscular disorders associated with distinctive clinical, electrophysiological …

Sudden infant death syndrome (SIDS) is a condition in which an infant, usually in the early
postnatal period and nearly always before 6 months of age, dies during sleep for …

Choline acetyltransferase catalyzes the synthesis of acetylcholine at cholinergic nerves.
Mutations in human CHAT cause a congenital myasthenic syndrome due to impaired …

Introduction: Major advances in genetic analysis and neuroimaging have modified the
traditional diagnostic approach for neuromuscular disorders. The purpose of this study was …