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Muscle carnitine palmityltransferase deficiency: A case with enzyme deficiency in cultured fibroblasts

✍ Scribed by Dr. S. Didonato; F. Cornelio; L. Pacini; D. Peluchetti; M. Rimoldi; S. Spreafico


Publisher
John Wiley and Sons
Year
1978
Tongue
English
Weight
288 KB
Volume
4
Category
Article
ISSN
0364-5134

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Molecular analysis in spanish patients w
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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