Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations

Clin Genet. 2007 Jul;72(1):63-5. doi: 10.1111/j.1399-0004.2007.00824.x.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Cell Line
  • Exons
  • Female
  • Genes, Recessive
  • Green Fluorescent Proteins / genetics
  • Green Fluorescent Proteins / metabolism
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Muscle Proteins / genetics*
  • Muscle Proteins / metabolism
  • Myasthenic Syndromes, Congenital / genetics*
  • Pedigree
  • Point Mutation*
  • Receptors, Nicotinic / genetics
  • Receptors, Nicotinic / metabolism
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Transfection

Substances

  • Muscle Proteins
  • Receptors, Nicotinic
  • Recombinant Fusion Proteins
  • peripheral membrane protein 43K
  • Green Fluorescent Proteins