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

Antzeko izenburuak

• The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
  nork: Muller, J, et al.
  Argitaratua: (2004)
• Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders
  nork: Ohno, K, et al.
  Argitaratua: (2004)
• Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome
  nork: Ohno, Kinji, et al.
  Argitaratua: (2002)
• A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome
  nork: Xing, Guanglin, et al.
  Argitaratua: (2019)
• Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients
  nork: Milone, M, et al.
  Argitaratua: (2009)