MERRF syndrome without ragged-red fibers: the need for molecular diagnosis.
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.
Mancuso
Michelangelo
M
Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. mmancuso@inwind.it
Petrozzi
Lucia
L
Filosto
Massimiliano
M
Nesti
Claudia
C
Rocchi
Anna
A
Choub
Anna
A
Pistolesi
Sabina
S
Massetani
Roberto
R
Fontanini
Gabriella
G
Siciliano
Gabriele
G
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
D000077287:Levetiracetam; D010889:Piracetam