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Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency

✍ Scribed by P. Briones; B. Garavaglia; A. Ribes; M. E. Yoldi; M. Rodés; C. Romero; F. García-Bragado


Publisher
Springer
Year
1995
Tongue
English
Weight
210 KB
Volume
18
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