Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis

J Clin Neurosci. 2011 Feb;18(2):290-2. doi: 10.1016/j.jocn.2010.06.001. Epub 2010 Dec 15.


A high number of cytochrome c oxidase (COX)-negative muscle fibres (approximately 45%) without ragged red fibres was found in a 27-year-old male patient with a single unprovoked episode of severe rhabdomyolysis. There was no family history of neuromuscular disorder and sequencing revealed a novel COX III single base pair deletion (MT-CO3{NC_012920.1}:m.[9559delC]). The deletion creates a frame shift and downstream termination codon affecting the last 136 amino acids (MT-CO3{YP_003024032.1}:p.[Pro118GlnfsX124]). The heteroplasmic mutation load in muscle was approximately 58% and single COX-negative fibres harboured significantly greater levels of mutant mitochondrial DNA than COX-positive fibres.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Pairing / genetics*
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / genetics*
  • Frameshift Mutation / genetics
  • Gene Deletion*
  • Humans
  • Male
  • Molecular Sequence Data
  • Protein Subunits / genetics
  • Rhabdomyolysis / enzymology*
  • Rhabdomyolysis / genetics*
  • Sequence Deletion / genetics
  • Severity of Illness Index


  • DNA, Mitochondrial
  • Protein Subunits
  • Electron Transport Complex IV