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A novel compound heterozygous mutation of C20orf54 gene associated with B rown– V ialetto– V an L aere s yndrome in an I talian family

2013; Wiley; Volume: 20; Issue: 7 Linguagem: Inglês

10.1111/ene.12163

1468-1331

M. Poggio, Stella Gagliardi, Matteo Pardini, Enrico Marchioni, Margherita Monti Bragadin, Lizia Reni, Laura Doria‐Lamba, Luca Roccatagliata, Mauro Ceroni, Angelo Schenone, Cristina Cereda,

Mitochondrial Function and Pathology

European Journal of NeurologyVolume 20, Issue 7 p. e94-e95 Letter to the Editor A novel compound heterozygous mutation of C20orf54 gene associated with Brown–Vialetto–Van Laere syndrome in an Italian family M. Bandettini di Poggio, M. Bandettini di Poggio Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy MBdP, SG, AS and CC contributed equally to this study.Search for more papers by this authorS. Gagliardi, Corresponding Author S. Gagliardi Laboratory of Experimental Neurobiology, 'C. Mondino' National Institute of Neurology Foundation, IRCCS, Pavia, Italy MBdP, SG, AS and CC contributed equally to this study.Correspondence: S. Gagliardi, Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute 'C. Mondino' Foundation, Pavia, Italy (tel.: 0039 0382 380396; fax: 0039 0382 380325; e-mail: [email protected]).Search for more papers by this authorM. Pardini, M. Pardini Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalySearch for more papers by this authorE. Marchioni, E. Marchioni Department of General Neurology, 'C. Mondino' National Institute of Neurology Foundation, IRCCS, Pavia, ItalySearch for more papers by this authorM. Monti Bragadin, M. Monti Bragadin Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy Don Carlo Gnocchi Onlus Foundation, Milan, ItalySearch for more papers by this authorL. Reni, L. Reni Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalySearch for more papers by this authorL. Doria-Lamba, L. Doria-Lamba Children Neuropsychiatry Operative Unit, G. Gaslini Institute, Genoa, ItalySearch for more papers by this authorL. Roccatagliata, L. Roccatagliata Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalySearch for more papers by this authorM. Ceroni, Corresponding Author M. Ceroni Department of General Neurology, 'C. Mondino' National Institute of Neurology Foundation, IRCCS, Pavia, Italy Don Carlo Gnocchi Onlus Foundation, Milan, Italy Children Neuropsychiatry Operative Unit, G. Gaslini Institute, Genoa, Italy Department of Public Health, Neuroscience, Experimental and Forensic Medicine, University of Pavia, Pavia, ItalyCorrespondence: S. Gagliardi, Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute 'C. Mondino' Foundation, Pavia, Italy (tel.: 0039 0382 380396; fax: 0039 0382 380325; e-mail: [email protected]).Search for more papers by this authorA. Schenone, A. Schenone Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy MBdP, SG, AS and CC contributed equally to this study.Search for more papers by this authorC. Cereda, C. Cereda Laboratory of Experimental Neurobiology, 'C. Mondino' National Institute of Neurology Foundation, IRCCS, Pavia, Italy MBdP, SG, AS and CC contributed equally to this study.Search for more papers by this author M. Bandettini di Poggio, M. Bandettini di Poggio Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy MBdP, SG, AS and CC contributed equally to this study.Search for more papers by this authorS. Gagliardi, Corresponding Author S. Gagliardi Laboratory of Experimental Neurobiology, 'C. Mondino' National Institute of Neurology Foundation, IRCCS, Pavia, Italy MBdP, SG, AS and CC contributed equally to this study.Correspondence: S. Gagliardi, Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute 'C. Mondino' Foundation, Pavia, Italy (tel.: 0039 0382 380396; fax: 0039 0382 380325; e-mail: [email protected]).Search for more papers by this authorM. Pardini, M. Pardini Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalySearch for more papers by this authorE. Marchioni, E. Marchioni Department of General Neurology, 'C. Mondino' National Institute of Neurology Foundation, IRCCS, Pavia, ItalySearch for more papers by this authorM. Monti Bragadin, M. Monti Bragadin Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy Don Carlo Gnocchi Onlus Foundation, Milan, ItalySearch for more papers by this authorL. Reni, L. Reni Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalySearch for more papers by this authorL. Doria-Lamba, L. Doria-Lamba Children Neuropsychiatry Operative Unit, G. Gaslini Institute, Genoa, ItalySearch for more papers by this authorL. Roccatagliata, L. Roccatagliata Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalySearch for more papers by this authorM. Ceroni, Corresponding Author M. Ceroni Department of General Neurology, 'C. Mondino' National Institute of Neurology Foundation, IRCCS, Pavia, Italy Don Carlo Gnocchi Onlus Foundation, Milan, Italy Children Neuropsychiatry Operative Unit, G. Gaslini Institute, Genoa, Italy Department of Public Health, Neuroscience, Experimental and Forensic Medicine, University of Pavia, Pavia, ItalyCorrespondence: S. Gagliardi, Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute 'C. Mondino' Foundation, Pavia, Italy (tel.: 0039 0382 380396; fax: 0039 0382 380325; e-mail: [email protected]).Search for more papers by this authorA. Schenone, A. Schenone Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy MBdP, SG, AS and CC contributed equally to this study.Search for more papers by this authorC. Cereda, C. Cereda Laboratory of Experimental Neurobiology, 'C. Mondino' National Institute of Neurology Foundation, IRCCS, Pavia, Italy MBdP, SG, AS and CC contributed equally to this study.Search for more papers by this author First published: 10 June 2013 https://doi.org/10.1111/ene.12163Citations: 9 Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article.Citing Literature Volume20, Issue7July 2013Pages e94-e95 RelatedInformation