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Carnitine acyltransferases in normal human skeletal muscle and in muscle of patients with carnitine palmitoyltransferase deficiency

✍ Scribed by Neumann-Schmidt, Sabine; Zierz, Stephan


Book ID
123485424
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
702 KB
Volume
1
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