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Article

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

American journal of human genetics - 1 Apr 2002

Ohno Kinji, Engel Andrew G, Shen Xin-Ming, Selcen Duygu, Brengman Joan, Harper C Michel, Tsujino Akira, Milone Margherita

Abstract excerpt

Congenital myasthenic syndromes (CMSs) stem from genetic defects in endplate (EP)-specific presynaptic, synaptic, and postsynaptic proteins. The postsynaptic CMSs identified to date stem from a deficiency or kinetic abnormality of the acetylcholine receptor (AChR). All CMSs with a kinetic abnormality of AChR, as well as many CMSs with a deficiency of AChR, have been traced to mutations in AChR-subunit genes....

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Identifiers

PMID: 11791205
DOI: 10.1086/339465
PMCID: PMC379116

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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