Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation

BMJ Case Rep. 2012 Dec 6:2012:bcr2012006980. doi: 10.1136/bcr-2012-006980.


Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes comprises a number of mitochondrial disorders with a wide range of clinical presentations. We present the case of a 32-year-old patient with an m.3243A>T mitochondrial DNA mutation who presented with rhabdomyolysis after 2 days of excessive physical work. The case presented here demonstrates a new clinical phenotype associated with this pathogenic mtDNA mutation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • DNA, Mitochondrial
  • Exercise*
  • Humans
  • Male
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / genetics*
  • Musculoskeletal Pain / etiology*
  • Mutation
  • Phenotype
  • RNA, Transfer, Leu / genetics*
  • Rhabdomyolysis / etiology*


  • DNA, Mitochondrial
  • RNA, Transfer, Leu