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Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

30 Dec 2002

Abstract excerpt

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...

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PMID: 12548525
DOI: 10.1002/mus.10300

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