The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

J Med Genet. 2004 Aug;41(8):e104. doi: 10.1136/jmg.2004.021139.
No abstract available

Publication types

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

MeSH terms

  • Asparagine / genetics*
  • Europa
  • Evolution, Molecular*
  • Founder Effect*
  • Humans
  • Indien
  • Lysine / genetics*
  • Muscle Proteins / genetics*
  • Mutation, Missense / genetics*
  • Myasthenic Syndromes, Congenital / genetics*

Substances

  • Muscle Proteins
  • peripheral membrane protein 43K
  • Asparagine
  • Lysine