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Profound carnitine palmitoyltransferase II deficiency

โœ Scribed by George Hug; Kevin E. Bove; Shirley Soukup


Book ID
117164537
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
216 KB
Volume
124
Category
Article
ISSN
1097-6833

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The most common form of carnitine palmitoyltransferase II (CPT II) deficiency occurs in adults and is characterized by muscle pain, stiffness, and myoglobinuria, triggered by exercise, fasting, or other metabolic stress. This study reports the molecular heterogeneity of CPT2 mutations and their bioc