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Article

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

Journal of the neurological sciences - 15 May 2012

Leshinsky-Silver Esther, Shapira Daniel, Yosovitz Keren, Ginsberg Mira, Lerman-Sagie Tally, Lev Dorit

Abstract excerpt

Congenital myasthenic syndromes (CMS) are rare genetic disorders characterized by impaired neuromuscular transmission. They are caused by mutations in synaptic, presynaptic and post synaptic proteins. Rapsyn is a postsynaptic peripheral membrane protein that anchors the nicotinic acetylcholine re...

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Source

Identifiers

PMID: 22326364
DOI: 10.1016/j.jns.2012.01.012

Genes

RAPSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22326364-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.PMID 22326364Read ↗

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.Semantic proximity Read ↗

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A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.Semantic proximity Read ↗

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Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.Semantic proximity Read ↗

Identification of pathogenic mutations in the human rapsyn gene.Semantic proximity Read ↗

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.Semantic proximity Read ↗

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