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

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

doi:10.1212/WNL.0b013e318294b44c

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

Michelangelo Mancuso
, Daniele Orsucci
, Corrado Angelini
, Enrico Bertini
, Valerio Carelli
, Giacomo Pietro Comi
, Carlo Minetti
, Maurizio Moggio
, Tiziana Mongini
, Serenella Servidei
, Paola Toninc
, Antonio Toscano
, Graziella Uziel
, Claudio Bruno
, Elena Caldarazzo Ienco
, Massimiliano Filosto
, Costanza Lamperti
, Diego Martinelli
, Isabella Moroni
, Olimpia Musumeci

Elena Pegoraro, Dario Ronchi, Filippo Maria Santorelli, Donato Sauchelli, Mauro Scarpelli, Monica Sciacco, Marco Spinazzi, Maria Lucia Valentino, Liliana Vercelli, Massimo Zeviani, Gabriele Siciliano

Risultato della ricerca: Contributo in rivista › Articolo

123 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 originale	Inglese
pagine (da-a)	2049-2054
Numero di pagine	6
Rivista	Neurology
Volume	80
DOI	https://doi.org/10.1212/WNL.0b013e318294b44c
Stato di pubblicazione	Pubblicato - 2013

Keywords

DNA, Mitochondrial
MERRF Syndrome

Accesso al documento

10.1212/WNL.0b013e318294b44c

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Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Toninc, P., Toscano, A., Uziel, G., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Martinelli, D., Moroni, I., ... Siciliano, G. (2013). Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology, 80, 2049-2054. https://doi.org/10.1212/WNL.0b013e318294b44c

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title = "Phenotypic heterogeneity of the 8344A>G mtDNA {"}MERRF{"} mutation",

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.",

keywords = "DNA, Mitochondrial, MERRF Syndrome, DNA, Mitochondrial, MERRF Syndrome",

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

year = "2013",

doi = "10.1212/WNL.0b013e318294b44c",

language = "English",

volume = "80",

pages = "2049--2054",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

}

Mancuso, M, Orsucci, D, Angelini, C, Bertini, E, Carelli, V, Comi, GP, Minetti, C, Moggio, M, Mongini, T, Servidei, S, Toninc, P, Toscano, A, Uziel, G, Bruno, C, Ienco, EC, Filosto, M, Lamperti, C, Martinelli, D, Moroni, I, Musumeci, O, Pegoraro, E, Ronchi, D, Santorelli, FM, Sauchelli, D, Scarpelli, M, Sciacco, M, Spinazzi, M, Valentino, ML, Vercelli, L, Zeviani, M & Siciliano, G 2013, 'Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation', Neurology, vol. 80, pagg. 2049-2054. https://doi.org/10.1212/WNL.0b013e318294b44c

TY - JOUR

T1 - Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

AU - Mancuso, Michelangelo

AU - Orsucci, Daniele

AU - Angelini, Corrado

AU - Bertini, Enrico

AU - Carelli, Valerio

AU - Comi, Giacomo Pietro

AU - Minetti, Carlo

AU - Moggio, Maurizio

AU - Mongini, Tiziana

AU - Servidei, Serenella

AU - Toninc, Paola

AU - Toscano, Antonio

AU - Uziel, Graziella

AU - Bruno, Claudio

AU - Ienco, Elena Caldarazzo

AU - Filosto, Massimiliano

AU - Lamperti, Costanza

AU - Martinelli, Diego

AU - Moroni, Isabella

AU - Musumeci, Olimpia

AU - Pegoraro, Elena

AU - Ronchi, Dario

AU - Santorelli, Filippo Maria

AU - Sauchelli, Donato

AU - Scarpelli, Mauro

AU - Sciacco, Monica

AU - Spinazzi, Marco

AU - Valentino, Maria Lucia

AU - Vercelli, Liliana

AU - Zeviani, Massimo

AU - Siciliano, Gabriele

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

KW - DNA, Mitochondrial

KW - MERRF Syndrome

KW - DNA, Mitochondrial

KW - MERRF Syndrome

UR - http://hdl.handle.net/10807/53933

U2 - 10.1212/WNL.0b013e318294b44c

DO - 10.1212/WNL.0b013e318294b44c

M3 - Article

SN - 0028-3878

VL - 80

SP - 2049

EP - 2054

JO - Neurology

JF - Neurology

ER -

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

Abstract

Keywords

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