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

Chevessier, F., Peter, C., Mersdorf, U., Girard, E., Krejci, E., McArdle, J. J., et al. (2012). A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation. Neurobiology of Disease, 45(3), 851-861. doi:10.1016/j.nbd.2011.10.024.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0024-1138-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0024-1139-8
Genre: Journal Article
Alternative Title : A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation

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 Creators:
Chevessier, Frédéric1, 2, Author              
Peter, Christoph1, 2, Author              
Mersdorf, Ulrike, Author
Girard, Emmanuelle, Author
Krejci, Eric, Author
McArdle, Joseph J., Author
Witzemann, Veit1, 2, Author              
Affiliations:
1Department of Molecular Neurobiology, Max Planck Institute for Medical Research, Max Planck Society, ou_1497704              
2Department of Cell Physiology, Max Planck Institute for Medical Research, Max Planck Society, ou_1497701              

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Free keywords: Neuromuscular Junction, Slow Channel Congenital Myasthenic Syndrome, Acetylcholine Receptor, mouse model, homologous recombination
 Abstract: We have generated a new mouse model for congenital myasthenic syndromes by inserting the missense mutation L221F into the ? 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 summation of endplate potentials may account for a depolarization block at increasing stimulus frequencies, moderate reduced muscle strength and tetanic fade. Calcium and intracellular vesicle accumulation as well as junctional fold loss and organelle degeneration underlying a typical endplate myopathy, were identified. Moreover, a remodelling of neuromuscular junctions occurs in a muscle−dependent pattern expressing variable phenotypic effects. Altogether, this mouse model provides new insight into the pathophysiology of congenital myasthenia and serves as a new tool for deciphering signalling pathways induced by excitotoxicity at peripheral synapses. Key words: Neuromuscular Junction, Slow Channel Congenital Myasthenic Syndrome, Acetylcholine Receptor, mouse model, homologous recombination

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Language(s): eng - English
 Dates: 2011-07-182011-10-282011-12-082012-03-01
 Publication Status: Published in print
 Pages: -
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 Rev. Type: Peer
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Title: Neurobiology of Disease
  Other : Neurobiol. Dis.
Source Genre: Journal
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Publ. Info: Oxford : Academic Press
Pages: - Volume / Issue: 45 (3) Sequence Number: - Start / End Page: 851 - 861 Identifier: ISSN: 0969-9961
CoNE: https://pure.mpg.de/cone/journals/resource/954922649144