Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Serenella Servidei, Donato Sauchelli, Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, Enrico Bertini, Valerio Carelli, Giacomo Pietro Comi, Carlo Minetti, Maurizio Moggio, Tiziana Mongini, Paola Toninc, Antonio Toscano, Graziella Uziel, Claudio Bruno, Elena Caldarazzo Ienco, Massimiliano Filosto, Costanza Lamperti, Diego Martinelli, Isabella MoroniOlimpia Musumeci, Elena Pegoraro, Dario Ronchi, Filippo Maria Santorelli, Mauro Scarpelli, Monica Sciacco, Marco Spinazzi, Maria Lucia Valentino, Liliana Vercelli, Massimo Zeviani, Gabriele Siciliano

Risultato della ricerca: Contributo in rivistaArticolo in rivista

122 Citazioni (Scopus)

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 originaleEnglish
pagine (da-a)2049-2054
Numero di pagine6
RivistaNeurology
Volume80
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • DNA, Mitochondrial
  • MERRF Syndrome

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