Article
A novel mutation identified in carnitine palmitoyltransferase II deficiency.
Molecular genetics and metabolism - 1 Feb 1998
Yang B Z, Ding J H, Roe D, Dewese T, Day D W, Roe C R
Abstract excerpt
Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of mitochondrial fatty-acid oxidation which presents as three distinct phenotypes (neonatal, infantile, and adult onset). CPT II exons from an adult-onset CPT II-deficient patient were amplified and directly sequenced to further investigate the molecular basis of this disorder. A novel mutation, C471T, in exon 4 of the...
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