Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency
Articolo
Data di Pubblicazione:
2008
Citazione:
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency / S.P. Corti, A. Bordoni, D. Ronchi, O. Musumeci, M. Aguennouz, A. Toscano, C. Lamperti, N. Bresolin, G.P. Comi. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 266:1-2(2008 Mar 15), pp. 97-103.
Abstract:
Carnitine palmitoyltransferase II (CPT II) deficiency is the most common inherited disorder of lipid metabolism characterized in its adult form by attacks of myalgia and myoglobinuria. We analyzed a cohort of 22 CPT II-deficient patients (representing 20 independent probands) to correlate clinical presentation and molecular data. The common p.Ser113Leu mutation was detected with an allelic frequency of 67.5% (27/40), in association with mild adult-onset phenotype. In addition to the p.Ser113Leu mutation, other 10 disease-causing mutations were identified, 5 of which were novel. They are a micro-insertion within exon 5, three aminoacid substitutions within the coding region, namely p.Arg151Trp, p.Asp576Gly, p.Arg247Trp and a truncating stop codon mutation (p.Arg554Ter). Our data expand the spectrum of CPT II mutations and help to evaluate possible correlations between genotypes and phenotypes.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
carnitine palmitoyltransferase II; CPT2; genotype–phenotype ; mutation ; skeletal muscle ; fatty acid oxidation
Elenco autori:
S.P. Corti, A. Bordoni, D. Ronchi, O. Musumeci, M. Aguennouz, A. Toscano, C. Lamperti, N. Bresolin, G.P. Comi
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