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Article

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.

Neurobiology of disease - 1 Mar 2012

Chevessier Frédéric, Peter Christoph, Mersdorf Ulrike, Girard Emmanuelle, Krejci Eric, McArdle Joseph J, Witzemann Veit

Abstract excerpt

We have generated a new mouse model for congenital myasthenic syndromes by inserting the missense mutation L221F into the ε subunit of the acetylcholine receptor by homologous recombination. This mutation has been identified in man to cause a mild form of slow-channel congenital myasthenic syndrome with variable penetrance. In our mouse model we observe as in human patients prolonged endplate currents. The...

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PMID: 22178625
DOI: 10.1016/j.nbd.2011.10.024

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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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