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={Ricardo A Maselli and Da Guang Chen and Delores Mo and Constance M. Bowe and Grace Fenton and Robert L. 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… 

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Congenital myasthenic syndromes

...

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