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

Ítems similars

• Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes
  per: Richard, P, et al.
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• A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
  per: Thompson, Rachel, et al.
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• RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position
  per: Laura Keehan, et al.
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• Therapeutic strategies in congenital myasthenic syndromes
  per: Schara, Ulrike, et al.
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• Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders
  per: Ohno, K, et al.
  Publicat: (2004)