Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 12-01-2016
Symbol CMS17
Location 11p11.2
Name myasthenic syndrome, congenital, 17
Corresponding gene LRP4
Main clinical features
  • mild ptosis, slight limitation of lateral eye movements, moderately severe proximal greater than distal weakness, and hyporeflexia
  • normal expression of the acetylcholine receptor (AChR) and acetylcholinesterase (AChE), although the total number of AChR per endplate was slightly decreased
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease