title: MERRF syndrome without ragged-red fibers: the need for molecular diagnosis.
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 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.
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. mmancuso@inwind.it
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Lucia
authors.initials: L
authors.lastname: Petrozzi
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.forename: Claudia
authors.initials: C
authors.lastname: Nesti
authors.forename: Anna
authors.initials: A
authors.lastname: Rocchi
authors.forename: Anna
authors.initials: A
authors.lastname: Choub
authors.forename: Sabina
authors.initials: S
authors.lastname: Pistolesi
authors.forename: Roberto
authors.initials: R
authors.lastname: Massetani
authors.forename: Gabriella
authors.initials: G
authors.lastname: Fontanini
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D006801:Humans; D000077287:Levetiracetam; D017243:MERRF Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology*; D008297:Male; D018656:Muscle Fibers, Fast-Twitch / Q000473:pathology*; D010889:Piracetam / Q000031:analogs & derivatives / Q000627:therapeutic use
chemical_list: D000077287:Levetiracetam; D010889:Piracetam