Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

J Med Genet. 2003 Jun;40(6):e81. doi: 10.1136/jmg.40.6.e81.
No abstract available

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics*
  • Asparagine / genetics
  • Child
  • Child, Preschool
  • Female
  • Founder Effect*
  • Humans
  • Infant
  • Lysine / genetics
  • Male
  • Muscle Proteins / genetics*
  • Mutation*
  • Myasthenic Syndromes, Congenital / genetics*
  • Pedigree
  • Receptors, Nicotinic / genetics

Substances

  • Muscle Proteins
  • Receptors, Nicotinic
  • peripheral membrane protein 43K
  • Asparagine
  • Lysine