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  • Title: Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients.
    Author: Wieser T, Deschauer M, Olek K, Hermann T, Zierz S.
    Journal: Neurology; 2003 Apr 22; 60(8):1351-3. PubMed ID: 12707442.
    Abstract:
    The authors investigated 32 patients with the muscle form of CPT II deficiency. Total carnitine palmitoyltransferase enzyme system (CPT) activity was normal but abnormally inhibited by malonyl-CoA, palmitoyl-CoA, and the detergents Triton X and Tween 20. Mutation analysis identified three described mutations (S113L, P50H, and F448L) and two novel mutations (M214T and Y479F). Using modeling techniques, a structure could be identified anchoring the protein in the membrane. Only one of the five mutations (Y479F) is located within this region.
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