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.

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Bruno, C., Caldarazzo Ienco, E., Filosto, M., Lamperti, C., Martinelli, D., Moroni, I., Musumeci, O., Pegoraro, E., Ronchi, D., Santorelli, F., Sauchelli, D., Scarpelli, M., Sciacco, M., Spinazzi, M., Valentino, M., Vercelli, L., Zeviani, M., Siciliano, G., Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation, <<NEUROLOGY>>, 2013; 80 (22): 2049-2054. [doi:10.1212/WNL.0b013e318294b44c] [http://hdl.handle.net/10807/53933]

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

Servidei, Serenella;Sauchelli, Donato;
2013

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.
2013
Inglese
Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Bruno, C., Caldarazzo Ienco, E., Filosto, M., Lamperti, C., Martinelli, D., Moroni, I., Musumeci, O., Pegoraro, E., Ronchi, D., Santorelli, F., Sauchelli, D., Scarpelli, M., Sciacco, M., Spinazzi, M., Valentino, M., Vercelli, L., Zeviani, M., Siciliano, G., Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation, <<NEUROLOGY>>, 2013; 80 (22): 2049-2054. [doi:10.1212/WNL.0b013e318294b44c] [http://hdl.handle.net/10807/53933]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/53933
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