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

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

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...

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Bibliographic Details
Main Authors: Frédéric Chevessier, Christoph Peter, Ulrike Mersdorf, Emmanuelle Girard, Eric Krejci, Joseph J. McArdle, Veit Witzemann
Format: Article
Language:English
Published: Elsevier 2012-03-01
Series:Neurobiology of Disease
Subjects:
Neuromuscular junction
Slow channel congenital myasthenic syndrome
Acetylcholine receptor
Mouse model
Homologous recombination
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996111003561

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http://www.sciencedirect.com/science/article/pii/S0969996111003561

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