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GENATLAS PHENOTYPE
last update : 19-09-2023
Symbol CMS1C
Location 3p25.1
Name congenital myasthenic syndrome, type 1C
Other name(s)
  • end-plate acetyl cholinesterase deficiency
  • Engel congenital myasthenic syndrome
  • congenital myasthenic syndrome 5
    • Corresponding gene COLQ
    Other symbol(s) EAD, CMS5
    Main clinical features
  • onset of the disease in childhood
  • general weakness increased by exertion
  • ophthalmoplegia, ptosis
  • refractoriness to anticholinesterase drugs
    • Genetic determination autosomal recessive
    Prevalence very rare
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name ColQ, a specific collagen that anchors acetylcholinesterase in the basal lamina at the neuromuscular junction
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types      
    Remark(s) . mutation lead to endplate acetylcholinesterase deficiency (Schreiner 2007)
    Genotype/Phenotype correlations
  • age at onset, disease progression, disease severity, and functional impairment varied considerably among the patients
  • mutations in COLQ cause a congenital myasthenic syndrome (CMS) with ACHE deficiency (PMID: 26993635))