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NEUROLOGY 2005;65:463-465
© 2005 American Academy of Neurology
Brief Communications

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome

J. S. Müller, MSc, R. Stucka, PhD, S. Neudecker, MD, S. Zierz, MD, C. Schmidt, PhD, A. Huebner, MD, H. Lochmüller, MD and A. Abicht, MD

From the Friedrich-Baur-Institute (Drs. Stucka, Schmidt, Lochmüller, and Abicht, J.S. Müller), Department of Neurology, Ludwig Maximilians University; Munich, Department of Neurology (Drs. Neudecker and Zierz), Martin Luther University of Halle–Wittenberg, and Department of Pediatrics (Dr. Huebner), Technical University Dresden, Germany.

Address correspondence and reprint requests to Dr. H. Lochmüller, Molecular Myology Lab, Friedrich Baur Institute, Department of Neurology, Marchioninistr. 17, 81377 München, Germany; e-mail: Hanns.Lochmueller{at}med.uni-muenchen.de.

Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene. The molecular consequences of a novel intronic base alteration (CHRNE IVS5-16G{U279E}A) remote from the splice acceptor site were investigated in vivo and in vitro. In conclusion, RNA analysis may be necessary to reveal unexpected splicing aberrations due to intronic mutations that are not part of the consensus splice site.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the August 9 issue to find the title link for this article.

Supported by grants from the Deutsche Forschungsgemeinschaft and the Deutsche Gesellschaft für Muskelkranke (H.L., A.A.) and by a grant from the Saxonian State Ministry (A.H.). J.S.M. receives a scholarship from the Boehringer Ingelheim Fonds.

Disclosure: The authors report no conflicts of interest.

Received January 25, 2005. Accepted in final form April 18, 2005.




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Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
Neurology, October 10, 2006; 67(7): 1159 - 1164.
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