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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-01-2015
Symbol CMSAL2
Location 9q22.33
Name congenital myasthenic syndrome with ALG2 deficiency
Other name(s) congenital myasthenic syndrome 14
Corresponding gene ALG2
Other symbol(s) CMS14
Main clinical features
  • limb-girdle pattern of myasthenic weakness
  • associated with acetylcholine receptor deficiency, presentation in childhood age with arthrogryposis, ptosis and mild proximal limb weakness
  • Genetic determination not applicable
    Function/system disorder neuromuscular
    Type disease