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

Eitemau Tebyg

• The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
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• Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation
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• Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes
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• 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.
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  Cyhoeddwyd: (2005)
• A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
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  Cyhoeddwyd: (2018)