Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy
✍ Scribed by B. Melegh; L. Seress; T. Bedekovics; G. Kispál; B. Sümegi; K. Trombitás; K. Méhes
- Book ID
- 110225883
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 199 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0141-8955
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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