The spectrum of congenital end-plate acetylcholinesterase deficiency

Ann N Y Acad Sci. 1993 Jun 21:681:469-86. doi: 10.1111/j.1749-6632.1993.tb22931.x.
No abstract available

Publication types

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

MeSH terms

  • Acetylcholinesterase / deficiency*
  • Action Potentials
  • Adult
  • Child
  • Female
  • Humans
  • Infant
  • Male
  • Microscopy, Electron
  • Motor Endplate / enzymology
  • Motor Endplate / ultrastructure
  • Muscular Diseases / congenital*
  • Muscular Diseases / enzymology
  • Muscular Diseases / physiopathology
  • Neuromuscular Junction / physiology
  • Neuromuscular Junction / ultrastructure
  • Pedigree
  • Receptors, Nicotinic / physiology
  • Synaptic Transmission
  • Syndrome

Substances

  • Receptors, Nicotinic
  • Acetylcholinesterase