MERRF syndrome without ragged-red fibers: the need for molecular diagnosis

Biochem Biophys Res Commun. 2007 Mar 23;354(4):1058-60. doi: 10.1016/j.bbrc.2007.01.099. Epub 2007 Jan 26.


We report a patient with myoclonic epilepsy who underwent muscle biopsy for suspected mitochondrial disease (myoclonic epilepsy with ragged-red fibers, MERRF). In spite of normal histochemical studies and of the absence of a severe COX deficiency, the molecular analysis showed the common MERRF mutation (A8344G) in the tRNA(Lys) gene on mitochondrial DNA. The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Humans
  • Levetiracetam
  • MERRF Syndrome / diagnosis*
  • MERRF Syndrome / drug therapy
  • MERRF Syndrome / pathology*
  • Male
  • Muscle Fibers, Fast-Twitch / pathology*
  • Piracetam / analogs & derivatives
  • Piracetam / therapeutic use


  • Levetiracetam
  • Piracetam