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Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

โœ Scribed by S. E. Olpin; A. Afifi; S. Clark; N. J. Manning; J. R. Bonham; A. Dalton; J. V. Leonard; J. M. Land; B. S. Andresen; A. A. Morris; F. Muntoni; D. Turnbull; M. Pourfarzam; S. Rahman; R. J. Pollitt


Book ID
111554760
Publisher
Springer
Year
2003
Tongue
English
Weight
143 KB
Volume
26
Category
Article
ISSN
0141-8955

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โœ Georgirene D. Vladutiu ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 67 KB ๐Ÿ‘ 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