title: An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.
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.
authors.affiliation: Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany.
authors.forename: J S
authors.initials: JS
authors.lastname: Müller
authors.forename: R
authors.initials: R
authors.lastname: Stucka
authors.forename: S
authors.initials: S
authors.lastname: Neudecker
authors.forename: S
authors.initials: S
authors.lastname: Zierz
authors.forename: C
authors.initials: C
authors.lastname: Schmidt
authors.forename: A
authors.initials: A
authors.lastname: Huebner
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
authors.forename: A
authors.initials: A
authors.lastname: Abicht
mesh_terms: D000293:Adolescent; D017398:Alternative Splicing / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002460:Cell Line; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D018908:Muscle Weakness / Q000235:genetics; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D012313:RNA / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D011978:Receptors, Nicotinic / Q000235:genetics*
chemical_list: C504423:CHRNE protein, human; D018389:Codon, Nonsense; D022821:RNA Splice Sites; D011978:Receptors, Nicotinic; D012313:RNA