The most common mutation in muscle carnitine palmitoyltransferase II (CPT II) deficiency is a missense mutation that replaces a leucine for a serine residue at amino acid position 113 of the CPT II protein (S113L). We performed molecular analysis in a group of 14 Spanish patients with CPT II deficie
β¦ LIBER β¦
P4.55 Molecular genetic analysis in 45 patients with muscle carnitine palmitoyltransferase (CPT) II deficiency
β Scribed by P.R. Joshi; S. Zierz; M. Deschauer
- Book ID
- 116794680
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 37 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0960-8966
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## 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