Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes

Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn.2011.03.006. Epub 2011 Apr 17.


Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities. These genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. In this report we will explore the significant progress made in understanding the molecular pathogenesis of CMS, which is important for both patients and clinicians in terms of reaching a definite diagnosis and selecting the most appropriate treatment.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acetylcholine / genetics
  • Acetylcholinesterase / genetics
  • Genetic Heterogeneity*
  • Humans
  • Myasthenic Syndromes, Congenital / genetics*
  • Myasthenic Syndromes, Congenital / metabolism
  • Myasthenic Syndromes, Congenital / physiopathology*
  • Neuromuscular Junction / genetics
  • Neuromuscular Junction / metabolism
  • Neuromuscular Junction / physiopathology
  • Receptors, Cholinergic / genetics


  • Receptors, Cholinergic
  • Acetylcholinesterase
  • Acetylcholine