Article
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
Human mutation - 1 Jun 2000
Martín M A, Rubio J C, del Hoyo P, García A, Bustos F, Campos Y, Cabello A, Culebras J M, Arenas J
Abstract excerpt
Carnitine palmitoyltransferase II (CPT II) deficiency is the most common recessively inherited disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. We studied 5 Spanish patients with CPT II deficiency from four unrelated families. Four patients had the typical clinical phenotype of muscle CPT II deficiency with recurrent episodes of myoglobinuria,...
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