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

Lookup NU author(s): Dr Juliane Mueller, Dr Christoph Schmidt, Professor Hanns Lochmuller


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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 IVS5-16GA) 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.

Publication metadata

Author(s): Muller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmuller H, Abicht A

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2005

Volume: 65

Issue: 3

Pages: 463-465

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1212/01.wnl.0000172346.26219.fd


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