title: A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.
abstract: We identified a novel nonsense mutation in the carnitine palmitoyltransferase (CPT; EC 2.3.1.21) II gene in a patient with biochemical evidence of CPT II deficiency. The 39-year-old man suffered from the muscle form of CPT II deficiency. Attacks of myalgia and muscle weakness started in childhood and led to renal failure five times. A mild proximal weakness of the lower limbs was left as a residue. Molecular genetic analysis revealed the common S113L mutation on one allele. On the other allele a novel 4-bp deletion starting at codon 515 (515del4) was found leading to frameshift that results in a stop codon 15 codons upstream. Our data further expand the genetic heterogeneity in patients with CPT II deficiency.
authors.affiliation: Department of Neurology, Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube-Strasse 40, 06097 Halle/Saale, Germany. marcus.deschauer@medizin.uni-halle.de
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Thomas
authors.initials: T
authors.lastname: Wieser
authors.forename: Rolf
authors.initials: R
authors.lastname: Schröder
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion
chemical_list: D018389:Codon, Nonsense; D002334:Carnitine O-Palmitoyltransferase