Abstract
Carnitine palmitoyltransferase (CPT) II deficiency is the most common inherited disorder of long-chain fatty acid oxidation affecting muscle. There is a lethal neonatal form, a severe infantile hepato-cardio-muscular form and a myopathic form characterized by exercise-induced myalgia, weakness, and myoglobinuria. Genetic studies have identified a common S113L mutation in the myopathic form. We report on molecular genetic and clinical data in a large cohort of 45 patients (36 index patients) with muscle CPT II deficiency.
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