Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

@article{Maselli2003CholineAM,
  title={Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis},
  author={R. Maselli and Darlene Chen and Delores Mo and C. Bowe and G. Fenton and R. Wollmann},
  journal={Muscle \& Nerve},
  year={2003},
  volume={27}
}
The myasthenic syndrome due to abnormal acetylcholine resynthesis is characterized by early onset, recessive inheritance, and recurrent episodes of potentially fatal apnea. Mutations in the gene encoding choline acetyltransferase (CHAT) have been found to account for this condition. We have identified five patients from three independent families with features of this disease including, in four patients, a paradoxical worsening of symptoms with cold temperatures. Electrodiagnostic studies… Expand
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  • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2005
TLDR
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  • Neuromuscular Disorders
  • 2012
TLDR
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TLDR
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