A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

Ann Neurol. 1997 Mar;41(3):408-10. doi: 10.1002/ana.410410319.


We describe a patient who presented with acute rhabdomyolysis and had 68% cytochrome c oxidase (COX)-deficient fibers in skeletal muscle. Further investigations confirmed a respiratory chain defect that was associated with a novel heteroplasmic point mutation in the phenylalanine tRNA gene of the mitochondrial genome (mtDNA). Analysis of single muscle fibers revealed a significantly greater level of mutant mtDNA in COX-negative fibers. This is the first case of a mitochondrial tRNA gene point mutation presenting with acute rhabdomyolysis and recurrent myoglobinuria.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adult
  • Base Sequence
  • Biopsy
  • Cytochrome-c Oxidase Deficiency
  • Humans
  • Male
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Myoglobinuria / complications
  • Phenylalanine / genetics*
  • Point Mutation*
  • RNA, Transfer, Amino Acid-Specific / genetics*
  • Rhabdomyolysis / complications
  • Rhabdomyolysis / genetics*


  • RNA, Transfer, Amino Acid-Specific
  • Phenylalanine