Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene

Neurologia (Engl Ed). 2019 Mar;34(2):139-141. doi: 10.1016/j.nrl.2017.05.002. Epub 2017 Jul 13.
[Article in English, Spanish]
No abstract available

Publication types

  • Letter

MeSH terms

  • Autism Spectrum Disorder
  • Child
  • Cholinesterase Inhibitors / therapeutic use
  • Congenital Disorders of Glycosylation / genetics*
  • Humans
  • Mutation / genetics*
  • Myasthenic Syndromes, Congenital / genetics*
  • N-Acetylglucosaminyltransferases / genetics*
  • Pyridostigmine Bromide / therapeutic use

Substances

  • Cholinesterase Inhibitors
  • N-Acetylglucosaminyltransferases
  • dolichyl-phosphate alpha-N-acetylglucosaminyltransferase
  • Pyridostigmine Bromide