Article
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
Journal of the neurological sciences - 15 Mar 2008
Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, Lamperti C, Bresolin N, Comi G P
Abstract excerpt
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%...
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