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Lookup NU author(s): Professor Zofia Chrzanowska-LightowlersORCiD,
Dr Morteza Pourfarzam,
Professor Robert Taylor,
Emeritus Professor Doug Turnbull
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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. © 2003 Elsevier Science (USA). All rights reserved.
Author(s): Deschauer M, Chrzanowska-Lightowlers ZMA, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S
Publication type: Article
Publication status: Published
Journal: Molecular Genetics and Metabolism
ISSN (print): 1096-7192
ISSN (electronic): 1096-7206
Publisher: Academic Press
PubMed id: 12809643
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