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Myocardial carnitine and carnitine palmitoyltransferase deficiencies in patients with severe heart failure

✍ Scribed by Miguel A. Martı́n; Miguel A. Gómez; Fernando Guillén; Belén Börnstein; Yolanda Campos; J.C. Rubio; Carlos S. de la Calzada; Joaquı́n Arenas

Book ID
117617754
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
189 KB
Volume
1502
Category
Article
ISSN
0925-4439

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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