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

doi:10.1212/WNL.0b013e318294b44c

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Article

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

Neurology - 28 May 2013

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

Abstract excerpt

OBJECTIVES: 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...

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PMID: 23635963
DOI: 10.1212/WNL.0b013e318294b44c

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