Recently recognized congenital myasthenic syndromes: (a) end-plate acetylcholine (ACh) esterase deficiency (b) putative abnormality of the ACh induced ion channel (c) putative defect of ACh resynthesis or mobilization - clinical features, ultrastructure and cytochemistry

Ann N Y Acad Sci. 1981:377:614-39. doi: 10.1111/j.1749-6632.1981.tb33762.x.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acetylcholine / metabolism
  • Acetylcholinesterase / deficiency
  • Adult
  • Child
  • Humans
  • Ion Channels / metabolism
  • Male
  • Middle Aged
  • Motor Endplate / enzymology
  • Motor Endplate / metabolism
  • Myasthenia Gravis / congenital*
  • Myasthenia Gravis / diagnosis
  • Myasthenia Gravis / metabolism
  • Syndrome

Substances

  • Ion Channels
  • Acetylcholinesterase
  • Acetylcholine