A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency

Ann N Y Acad Sci. 1998 May 13:841:195-8. doi: 10.1111/j.1749-6632.1998.tb10927.x.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Exons
  • Female
  • Humans
  • Macromolecular Substances
  • Male
  • Microsatellite Repeats
  • Myasthenia Gravis / congenital
  • Myasthenia Gravis / genetics*
  • Myasthenia Gravis / physiopathology
  • Pedigree
  • Receptors, Cholinergic / chemistry
  • Receptors, Cholinergic / deficiency
  • Receptors, Cholinergic / genetics*
  • Sequence Deletion*
  • Syndrome

Substances

  • Macromolecular Substances
  • Receptors, Cholinergic