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

  1. Lookup NU author(s)
  2. Dr Juliane Mueller
  3. Dr Christoph Schmidt
  4. Professor Hanns Lochmuller
Author(s)Muller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmuller H, Abicht A
Publication type Article
JournalNeurology
Year2005
Volume65
Issue3
Pages463-465
ISSN (print)0028-3878
ISSN (electronic)1526-632X
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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.
PublisherLippincott Williams & Wilkins
URLhttp://dx.doi.org/10.1212/01.wnl.0000172346.26219.fd
DOI10.1212/01.wnl.0000172346.26219.fd
Actions    Link to this publication
Share