• Medicine
  • Published in Revue neurologique 2004

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].

@article{Andreux2004CongenitalMS,
  title={[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].},
  author={Fr{\'e}d{\'e}ric Andreux and Daniel Hantaı̈ and Bruno Eymard},
  journal={Revue neurologique},
  year={2004},
  volume={160 2},
  pages={
          163-76
        }
}
Congenital Myasthenic Syndromes (CMS) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. The twenty five past Years saw major advances in identifying different types of CMS due to abnormal presynaptic, synaptic, and postsynaptic proteins. CMS diagnosis requires two steps: 1) positive diagnosis supported by myasthenic signs beginning in neonatal period, efficacy of anticholinesterase medications, positive family history, negative tests for anti… CONTINUE READING