The spectrum of congenital myasthenic syndromes

@article{Engel2002TheSO,
  title={The spectrum of congenital myasthenic syndromes},
  author={Andrew Geddes Engel and Kinji Ohno and Steven M. Sine},
  journal={Molecular Neurobiology},
  year={2002},
  volume={26},
  pages={347-367}
}
The past decade saw remarkable advances in defining the molecular and genetic basis of the congenital myasthenic syndromes. These advances would not have been possible without antecedent clinical observations, electrophysiologic analysis, and careful morphologic studies that pointed to candidate genes or proteins. For example, a kinetic abnormality of the acetylcholine receptor (AChR) detected at the single channel level pointed to a kinetic mutation in an AChR subunit; endplate AChR deficiency… CONTINUE READING