کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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1916053 | 1535196 | 2008 | 7 صفحه PDF | دانلود رایگان |

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.
Journal: Journal of the Neurological Sciences - Volume 266, Issues 1–2, 15 March 2008, Pages 97–103