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Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome

Peyer, A. K. and Abicht, A. and Heinimann, K. and Sinnreich, M. and Fischer, D.. (2013) Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. Neuromuscular disorders, Vol. 23, H. 7. pp. 571-574.

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Official URL: http://edoc.unibas.ch/dok/A6338139

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Abstract

Slow channel congenital myasthenic syndrome is caused by a genetically determined kinetic anomaly of the acetylcholine receptor at the neuromuscular junction leading to its prolonged open state. Patients typically present with fatigability and static weakness of neck, hand and finger extensors. The open-channel blockers fluoxetine and quinidine have been used as standard treatment, although the former is limited by its side effects. We describe a patient with a novel "de novo" mutation in the alpha subunit of acetylcholine receptor with clinical and electrophysiological hallmarks of the disease. The patient showed marked treatment response to fluoxetine as well as quinine, a stereoisomer of quinidine, expanding the treatment options for this hereditary disorder.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Neuromuscular Research (Sinnreich)
UniBasel Contributors:Sinnreich, Michael
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Pergamon Press
ISSN:0960-8966
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:10 Apr 2015 09:12
Deposited On:10 Apr 2015 09:12

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