An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome (2005)

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

    Abstract: 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.

      • Date: 09-08-2005
      • Journal: Neurology
      • Volume: 65
      • Issue: 3
      • Pages: 463-465
      • Publisher: Lippincott Williams & Wilkins
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Adolescent Alternative Splicing/genetics Base Sequence/genetics Cell Line Codon, Nonsense/genetics DNA Mutational Analysis Female Frameshift Mutation/genetics Genetic Predisposition to Disease/ genetics Humans Introns/ genetics Muscle Weakness/genetics Muscle, Skeletal/metabolism/pathology/physiopathology Mutation/ genetics Myasthenic Syndromes, Congenital/ genetics RNA/genetics RNA Splice Sites/genetics Receptors, Nicotinic/ genetics


      Professor Hanns Lochmuller
      Professor of Experimental Myology