O.N. Elpeleg, A.B. Saada, A. Shaag, J.Z. Glustein, W. Ruitenbeek, I. Tein, J. Halevy
Inborn errors of pyruvate metabolism and the mito chondrial respiratory chain are rarely associated with recurrent myoglobinuria. A defect in the proteins containing iron-sulfur clusters, including compo nents of the Krebs cycle and the mitochondrial re spiratory chain, was found in 1 patienth and dele tions of m ito ch o n d rial DNA (mtDNA) were reported in 3 patients.8,13 Severe coenzyme Q defi ciency in muscle was detected in 2 sisters who sufferd since early childhood from recurrent myoglobinuria and myo…
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