title: A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.
abstract: We report the first splice junction mutation to be described in the carnitine palmitoyltransferase (CPT) 2 gene in a patient with the muscle form of CPT II deficiency. The patient, a 25-year-old man, suffered from attacks of myalgia and muscle weakness in early adult life. There was biochemical evidence of CPT II deficiency. Molecular genetic analysis revealed the common S113L mutation on one allele whilst a novel mutation at the splice donor junction in intron 3 was identified on the other allele. Sequencing of reverse transcription polymerase chain reaction (RT-PCR) products clearly demonstrated that this mutation causes the skipping of exon 3, thus establishing its pathogenic role.
authors.affiliation: Department of Neurology, Martin-Luther-University of Halle-Wittenberg, Ernst-Grube-Str. 40, 06097, Halle/Saale, Germany. marcus.deschauer@medizin.uni-halle.de
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Zofia M A
authors.initials: ZM
authors.lastname: Chrzanowska-Lightowlers
authors.forename: Eckhard
authors.initials: E
authors.lastname: Biekmann
authors.forename: Morteza
authors.initials: M
authors.lastname: Pourfarzam
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
mesh_terms: D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D018482:Muscle, Skeletal / Q000201:enzymology*; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D012326:RNA Splicing; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D002334:Carnitine O-Palmitoyltransferase