Muscle cytochromecoxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

Two CPT2 mutations in three Japanese pat

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

✍ Kaoru Wataya; Jun Akanuma; Patrizia Cavadini; Yoko Aoki; Shigeo Kure; Federica I 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB 👁 2 views

## Carnitine palmitoyltransferase II (CPT II) deficiency manifests as two different clinical phenotypes: a muscular form and a hepatic form. We have investigated three nonconsanguineous Japanese patients with CPT II deficiency. Molecular analysis revealed two missense mutations, a glutamate (174)to