Abstract
Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial syndrome, mostly caused by the 8344A>G mitochondrial DNA mutation. Most of the previous studies have been based on single case/family reports or series with few patients. The primary aim of this study was the characterization of a large cohort of patients with the 8344A>G mutation. The secondary aim was revision of the previously published data.
Lingua originale | English |
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pagine (da-a) | 2049-2054 |
Numero di pagine | 6 |
Rivista | Neurology |
Volume | 80 |
DOI | |
Stato di pubblicazione | Pubblicato - 2013 |
Keywords
- DNA, Mitochondrial
- MERRF Syndrome