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 MusumeciElena 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 in rivista

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	English
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

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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 & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320",

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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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