choline acetyltransferase deficiency
- choline acetyltransferase deficiency
- cho·line ac·e·tyl·trans·fer·ase de·fi·cien·cy (koґlēn as″ə-tēl-transґfər-ās) a congenital autosomal recessive disorder caused by mutation in the CHAT gene (locus: 10q11.2), which encodes choline O-acetyltransferase; it is characterized by generalized hypotonia that is present at birth, repeated episodes of life-threatening apnea, feeding difficulty, varying degrees of ophthalmoparesis, and occasionally arthrogryposis; symptoms often improve with age. Called also familial infantile myasthenia gravis.
Medical dictionary.
2011.
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