Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.

@article{Engel2003CongenitalMS,
  title={Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.},
  author={Andrew George Engel and Kinji Ohno and Xiaofei Shen and Steven M. Sine},
  journal={Annals of the New York Academy of Sciences},
  year={2003},
  volume={998},
  pages={
          138-60
        }
}
Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic, and postsynaptic proteins. The presynaptic CMS are associated with defects that curtail the evoked release of acetylcholine (ACh) quanta or ACh resynthesis. Defects in ACh resynthesis have now been traced to mutations in choline acetyltransferase. A synaptic CMS is caused by mutations in the collagenic tail subunit (ColQ) of the endplate species of acetylcholinesterase that prevent the tail subunit from… CONTINUE READING
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