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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-01-2016
Symbol CMS2C
Location 17p13.1
Name myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
Corresponding gene CHRNB1
Main clinical features
  • early-onset muscle weakness with variable severity
  • decremental electromyographic response on stimulation of motor nerves and response partially to acetylcholinesterase inhibitors
  • electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease