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last update : 12-01-2016
Symbol CMS4A
Location 17p13.2
Name congenital myasthenic syndrome, type IV A
Other name(s) myasthenic syndrome type IIa
Corresponding gene CHRNE
Other symbol(s) SCCMS, CMS2A
Main clinical features
  • severe slow-channel syndrome
  • selective involvement of cervical, scapular, and finger extensor muscles and ophthalmoparesis from infancy or early childhood
  • Genetic determination autosomal recessive
    autosomal dominant
    Related entries including CMS4B, CMS4C (OMIM: 616324; OMIM: 608931)
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name cholinergic receptor, nicotinic, epsilon polypeptide (CHRNE)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutation resulting in utrophin deficiency and reduced enfolding of the postsynaptic membrane