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A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

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.

Publication metadata

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

Year: 2003

Volume: 79

Issue: 2

Pages: 124-128

ISSN (print): 1096-7192

ISSN (electronic): 1096-7206

Publisher: Academic Press


DOI: 10.1016/S1096-7192(03)00067-2

PubMed id: 12809643


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