Article
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.
Journal of the neurological sciences - 15 Apr 2011
Emmanuele Valentina, Sotiriou Evangelia, Shirazi Maryam, Tanji Kurenai, Haller Ronald G, Heinicke Katja, Bosch Peter E, Hirano Michio, DiMauro Salvatore
Abstract excerpt
The differential diagnosis of myoglobinuria includes multiple etiologies, such as infection, inflammation, trauma, endocrinopathies, drugs toxicity, and primary metabolic disorders. Metabolic myopathies can be due to inherited disorders of glycogen metabolism or to defects of fatty acid oxidation. Primary respiratory chain dysfunction is a rare cause of myoglobinuria, but it has been described in sporadic cases...
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