Article
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Molecular genetics and metabolism - 1 Aug 2008
Isackson Paul J, Bennett Michael J, Lichter-Konecki Uta, Willis Mary, Nyhan William L, Sutton V Reid, Tein Ingrid, Vladutiu Georgirene D
Abstract excerpt
Three distinct clinical manifestations of carnitine palmitoyltransferase II (CPT II) deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form. In this study we have examined the genomic DNA of five patients, 3 with the lethal neonatal form and 2 with the severe infantile form of the disease and identified two disease-causing mutations in the CPT2...
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