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- W2082455314 abstract "To date, chronic myopathy has not been reported (to our knowledge) to occur in carnitine palmityltransferase (CPT) deficiency, a disorder of muscle lipid metabolism. We describe two patients with CPT deficiency: a mother, who had a partial CPT deficiency associated with fixed proximal weakness but without rhabdomyolysis, and her son, who had a complete CPT deficiency (95% reduction in enzyme activity) and who suffered from classic attacks of exercise-induced rhabdomyolysis but had normal strength on recovery. Careful examination of family members of patients with complete CPT deficiency is suggested in order to identify clinically affected heterozygotes." @default.
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- W2082455314 date "1989-05-01" @default.
- W2082455314 modified "2023-10-18" @default.
- W2082455314 title "Chronic Myopathy With a Partial Deficiency of the Carnitine Palmityltransferase Enzyme" @default.
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- W2082455314 doi "https://doi.org/10.1001/archneur.1989.00520410111034" @default.
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