Abstract:Four missense mutations have been reported to be associated with the typical, adult form of carnitine palmitoyltransferase II (CPT II) deficiency: Three amino acid substitutions (R631C. P50H and D553N) appear to be rare, while the S113L mutation was found to be common in a group of European patients with CPT II deficiency. We analyzed genomic DNA from 20 American patients with recurrent episodes of myoglobinuria as well as DNA from 10 normal controls in order to determine the frequency of the reported missense… Show more
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