Epilepsy Research Today is a free monthly online journal that collates and summarizes the latest research about Epilepsy, including details on symptoms, causes, treatment, drugs, information.

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

Mancuso M, Petrozzi L, Filosto M, Nesti C, Rocchi A, Choub A, Pistolesi S, Massetani R, Fontanini G, Siciliano G

Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. mmancuso@inwind.it

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.

Published 13 February 2007 in Biochem Biophys Res Commun, 354(4): 1058-60.
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