A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia

Anna Rubegni, Elena Cardaioli, Elena Chini, Paola Da Pozzo, Carla Battisti, Alessandro Malandrini, Antonio Federico

Research output: Contribution to journalArticlepeer-review


The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome. Here we report a patient with the 3243A>G mutation presenting only recurrent muscle fatigue and elevated levels of serum creatine kinase (CK). The mother of the proband was referred to us for type 2 diabetes mellitus, muscle pain and sensorineural hearing loss. The percentage of mutation load in different tissues was similar in both subjects, except in the urinary epithelium. The mutation load in the son's urinary epithelial cells (UEC) was consistently higher (nearly 50%) than in his muscle (nearly 20%). We conclude that a correlation between the proportion of the UEC mutation load and the severity of the disease was lacking in this pedigree. The use of UEC as the tissue of choice in the noninvasive diagnosis of the 3243A>G mutation offers a very attractive alternative to muscle biopsy. Finally, our data expand the clinical spectrum of the 3243A>G mutation.

Original languageEnglish
Pages (from-to)232-234
Number of pages3
JournalJournal of the Neurological Sciences
Issue number1-2
Publication statusPublished - Mar 15 2014


  • 3243A>G mutation
  • Heteroplasmy
  • Idiopathic hyperCKemia
  • MELAS syndrome
  • Mitochondrial myopathy
  • Mutation load

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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