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Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.

Abstract:

Congenital myasthenic syndromes (CMS) result from the failure to achieve muscle depolarisation due to disorders in the structure and/or function of the neuromuscular synapse. Mutations of the nicotinic acetylcholine receptor (nAChR) form a major subset of CMS. We describe a patient who presented with recurrent apnoeic crises in the neonatal period requiring ventilator support. Electromyography revealed compound muscle action potential decrement upon repetitive stimulation. Sequencing of nAChR...

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Publication status:
Published

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Publisher copy:
10.1016/j.nmd.2013.10.009

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, Molecular Medicine
Role:
Author
Journal:
Neuromuscular disorders : NMD
Volume:
24
Issue:
2
Pages:
143-147
Publication date:
2014-02-05
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
URN:
uuid:aed0990b-d5f7-46f8-8240-82d084bd8973
Source identifiers:
441656
Local pid:
pubs:441656

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