Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation

Valentina Emmanuele, Evangelia Sotiriou, Maryam Shirazi, Kurenai Tanji, Ronald G. Haller, Katja Heinicke, Peter E. Bosch, Michio Hirano, Salvatore Dimauro

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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 with mutations in genes encoding cytochrome b or cytochrome c oxidase (COX) subunits and in four cases with tRNA mutations. We describe a 39-year-old woman with myalgia and exercise-related recurrent myoglobinuria, who harbored a novel mitochondrial DNA mutation at nucleotide 4281 (m.4281A>G) in the tRNA-isoleucine gene. Her muscle biopsy revealed ragged-red and COX-deficient fibers. No deletions or duplication were detected by Southern blot analysis. The m.4281A>G mutation was present in the patient's muscle with a mutation load of 46% and was detected in trace amounts in urine and cheek mucosa. Single-fiber analysis revealed significantly higher levels of the mutation in COX-deficient (65%) than in normal fibers (45%). This novel mutation has to be added to the molecular causes of recurrent myoglobinuria.

Original languageEnglish (US)
Pages (from-to)39-42
Number of pages4
JournalJournal of the neurological sciences
Issue number1-2
StatePublished - Apr 15 2011


  • Elevated serum CK
  • Mitochondrial DNA
  • Mitochondrial myopathy
  • Myalgia
  • Myoglobinuria
  • tRNA

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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