Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.


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… (More)


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