title: Congenital myasthenic syndromes: an update.
abstract: OBJECTIVE
  Congenital myasthenic syndromes (CMSs) form a heterogeneous group of genetic diseases characterized by a dysfunction of neuromuscular transmission because of mutations in numerous genes. This review will focus on the causative genes recently identified and on the therapy of CMSs.
  
  
  RESULTS
  Advances in exome sequencing allowed the discovery of a new group of genes that did not code for the known molecular components of the neuromuscular junction, and the definition of a new group of glycosylation-defective CMS. Rather than the specific drugs used, some of them having been known for decades, it is the rigorous therapeutic strategy that is now offered to the patient in relation to the identified mutated gene that is novel and promising.
  
  
  CONCLUSIONS
  In addition to the above main points, we also present new data on the genes that were already known with an emphasis on the clinic and on animal models that may be of use to understand the pathophysiology of the disease. We also stress not only the diagnosis difficulties between congenital myopathies and CMSs, but also the continuum that may exist between the two.
authors.affiliation: Inserm, U975, Centre de recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. daniel.hantai@upmc.fr
authors.forename: Daniel
authors.initials: D
authors.lastname: Hantaï
authors.forename: Sophie
authors.initials: S
authors.lastname: Nicole
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
mesh_terms: D000818:Animals; D003937:Diagnosis, Differential; D004195:Disease Models, Animal; D006801:Humans; D009154:Mutation / Q000235:genetics; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics; D009469:Neuromuscular Junction / Q000235:genetics