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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.

We identified a novel nonsense mutation in the carnitine palmitoyltransferase ( CPT; EC 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.[1]


  1. A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. Deschauer, M., Wieser, T., Schröder, R., Zierz, S. Mol. Genet. Metab. (2002) [Pubmed]
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