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Article

Common founder effect of rapsyn N88K studied using intragenic markers.

Journal of human genetics - 1 Jan 2004

Dunne Vanessa, Maselli Ricardo A

Abstract excerpt

Mutations in the human gene encoding rapsyn have been linked to a recessive form of postsynaptic congenital myasthenic syndrome due to deficient clustering of acetylcholine receptors at the endplate. All patients reported to date carry the N88K mutation, suggesting a possible common founder effect. To decrease the likelihood of a recombination event occurring within the span of neighboring microsatellite markers,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15252722
DOI: 10.1007/s10038-004-0159-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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