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References OMIM Gene GeneReviews HGMD HGNC
last update : 24/10/2005
Symbol CMS2A
Location 17p13.1
Name congenital myasthenic syndrome, type IIB
Corresponding gene CHRNB1
Other symbol(s) SCCMS
Main clinical features
  • severe slow-channel syndrome
  • postsynaptic form, with selective involvement of cervical, scapular, and finger extensor muscles and ophthalmoparesis from infancy or early childhood
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name cholinergic receptor, nicotinic, beta polypeptide (CHRNB1)