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

Michelangelo Mancuso, Lucia Petrozzi, Massimiliano Filosto, Claudia Nesti, Anna Rocchi, Anna Choub, Sabina Pistolesi, Roberto Massetani, Gabriella Fontanini, Gabriele Siciliano

Research output: Contribution to journalArticle

Abstract

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 tRNALys 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.

Original languageEnglish
Pages (from-to)1058-1060
Number of pages3
JournalBiochemical and Biophysical Research Communications
Volume354
Issue number4
DOIs
Publication statusPublished - Mar 23 2007

Keywords

  • Genetic testing
  • MERRF
  • mtDNA
  • Ragged-red fibers

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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  • Cite this

    Mancuso, M., Petrozzi, L., Filosto, M., Nesti, C., Rocchi, A., Choub, A., Pistolesi, S., Massetani, R., Fontanini, G., & Siciliano, G. (2007). MERRF syndrome without ragged-red fibers: The need for molecular diagnosis. Biochemical and Biophysical Research Communications, 354(4), 1058-1060. https://doi.org/10.1016/j.bbrc.2007.01.099