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Official Full Name
choline O-acetyltransferase
Background
Defects in CHAT are the cause of congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]; formerly known as familial infantile myasthenia gravis 2 (FIMG2). CMSEA is an autosomal recessive congenital myasthenic syndrome. Patients have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement.
Synonyms
CHAT; choline O-acetyltransferase; CHOACTase; choline acetylase; choline acetyltransferase; acetyl CoA:choline O-acetyltransferase; CMS1A; CMS1A2; CMS1A, CMS1A2, CHOACTASE