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P4.55 Molecular genetic analysis in 45 patients with muscle carnitine palmitoyltransferase (CPT) II deficiency

✍ 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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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

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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