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GENATLAS PHENOTYPE

last update : 12-01-2016

Symbol	CMS16
Location	17q23.3
Name	congenital myasthenic syndrome, 16
Corresponding gene	SCN4A
Main clinical features	congenital myasthenic syndrome associated with fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis nerve stimulation at physiologic rates rapidly decremented the compound muscle action potential
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)