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Article

Mouse Model of Fast-Channel Genetic Myasthenic Syndrome Carrying Chrne p.P141L Mutation.

Biomolecules - 23 Jun 2026

Webster Richard G, Maxwell Susan, Dong Yin Y

Abstract excerpt

Fast-channel genetic myasthenic syndromes (FCGMSs) are caused by genetic variants in muscle nicotinic acetylcholine receptor (AChR) subunits that reduce channel open times and impair neuromuscular transmission. Among these, the CHRNE p.P141L variant (εP141L) is associated with particularly severe disease. Here, we characterized a knock-in mouse model harboring the homologous p.P141L variant in Chrne...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mice, Inbred C57BL

Share to Myasthenic Syndromes, Congenital

Share to Neuromuscular Junction

Share to Receptors, Nicotinic

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Source

Open in PubMed Open full text

Identifiers

PMID: 42509725
DOI: 10.3390/biom16070931
PMCID: PMC13406490

Genes

CHRNE
CHRNG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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