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  • Title: A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle.
    Author: Singh R, Shepherd IM, Derrick JP, Ramsay RR, Sherratt HS, Turnbull DM.
    Journal: FEBS Lett; 1988 Dec 05; 241(1-2):126-30. PubMed ID: 3197828.
    Abstract:
    A 20-year-old man was shown to have a deficiency of carnitine palmitoyltransferase (CPT) II in skeletal muscle. The evidence was: (i) there was no significant oxidation of [9,10-3H]-palmitate or of [1-14C]palmitate in mitochondrial fractions from fresh skeletal muscle from the patient; (ii) all the CPT activity in a homogenate of fresh muscle from the patient was overt (CPT I) with no increase in activity after the inner membrane was disrupted; (iii) all the CPT activity in the patient's muscle was inhibited by malonyl-CoA; and (iv) an immunoreactive peptide of 67 kDa corresponding to CPT II, present in mitochondria from controls, was absent in those from the patient.
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