Article
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.
Molecular genetics and metabolism - 1 Jun 2003
Deschauer Marcus, Chrzanowska-Lightowlers Zofia M A, Biekmann Eckhard, Pourfarzam Morteza, Taylor Robert W, Turnbull Douglass M, Zierz Stephan
Abstract excerpt
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...
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