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GENATLAS PHENOTYPE
last update : 12-01-2016
Symbol CMSP
Location 11p11.2
Name congenital myasthenic syndrome, post synaptic
Other name(s) congenital myasthenic syndrome 11
Corresponding gene RAPSN
Other symbol(s) CMS1D, FADS, CMS11
Main clinical features
  • disorders of the neuromuscular junction
  • associated with acetylcholine receptor deficiency, presentation in childhood age with arthrogryposis, ptosis and mild proximal limb weakness
  • antibodies to AChR were absent and response to anticholinesterase inhibitors was favorable.; at EMG a decrement in the CMAP, and at muscle biopsy a decrease in the amplitude of miniature endplate potentials (MEPP) and a reduction in the number of endplate AChR
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    neurology
    Type disease
    Gene product
    Name rapsyn
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein . mutation N88K homozygous or heterozygous for N88K and a second mutation (either L14P, 46insC, or Y269X . mild to moderate myasthenic symptoms with favorable response to anticholinesterase treatment
    deletion     Alu-mediated unequal homologous recombination may have caused the deletion
    Remark(s)