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The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models. Frontier forms between CMS and congenital myopathy, which have been genetically and clinically identified, underline the poorly understood interplay between the synaptic and extrasynaptic molecules in the neuromuscular system. In addition, precise electrophysiological and histopathological investigations of individuals with CMS suggest an important role of NMJ plasticity in the response to CMS pathogenesis. While efficient drug-based treatments are already available to improve neuromuscular transmission for most forms of CMS, others, as well as neurological and muscular comorbidities, remain resistant. Taken together, the available pathological data point to physiological issues which remain to be understood in order to achieve precision medicine with efficient therapeutics for all individuals suffering from CMS.<\/jats:p>","DOI":"10.3233\/jnd-170257","type":"journal-article","created":{"date-parts":[[2017,11,10]],"date-time":"2017-11-10T10:23:25Z","timestamp":1510309405000},"page":"269-284","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":34,"title":["Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions"],"prefix":"10.1177","volume":"4","author":[{"given":"Sophie","family":"Nicole","sequence":"first","affiliation":[{"name":"Inserm U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9s, UPMC Universit\u00e9 Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, 75013 Paris, 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