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References OMIM Gene GeneReviews HGMD HGNC
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