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GENATLAS PHENOTYPE

last update : 12-01-2016

Symbol	CMS6
Location	10q11.23
Name	congenital myasthenic syndrome 6
Corresponding gene	CHAT
Other symbol(s)	CMS1A, CMS-EA
Main clinical features	presynaptic form, with onset at birth, fluctuating ptosis, poor cry and suck, feeding difficulties associated with frequently fatal episodes of apnea
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	choline acetyltransferase

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense

Remark(s)