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Carnitine Palmitoyltransferase II Deficiency: A Clinical, Biochemical, and Molecular Review

✍ Scribed by Sigauke, E.


Book ID
110087171
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
476 KB
Volume
83
Category
Article
ISSN
0023-6837

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Biochemical and molecular correlations i
✍ Georgirene D. Vladutiu πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 67 KB πŸ‘ 2 views

Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exerciseinduced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease-causing mu

Molecular analysis in spanish patients w
✍ Miguel A. MartΓ­n; Juan C. Rubio; Fernando De Bustos; Pilar Del Hoyo; Yolanda Cam πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 70 KB πŸ‘ 2 views

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