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

Antzeko izenburuak

• Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes
  nork: Richard, P, et al.
  Argitaratua: (2003)
• A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
  nork: Thompson, Rachel, et al.
  Argitaratua: (2018)
• RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position
  nork: Laura Keehan, et al.
  Argitaratua: (2025-01-01)
• Therapeutic strategies in congenital myasthenic syndromes
  nork: Schara, Ulrike, et al.
  Argitaratua: (2008)
• 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)