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ACTA MYOLOGICA (Myopathies, Cardiomyopathies and Neuromyopathies) ACTA MYOLOGICA (Myopathies, Cardiomyopathies and Neuromyopathies) Vol. XXXIX - June 2020 Official Journal of Mediterranean Society of Myology and Associazione Italiana di Miologia Founders: Giovanni Nigro and Lucia Ines Comi Three-monthly EDITOR-IN-CHIEF Luisa Politano ASSISTANT EDITOR Vincenzo Nigro CO-EDITORS Lefkos Middleton Gabriele Siciliano Giuseppe Novelli Haluk Topaloglu Reinhardt Rüdel Antonio Toscano Official Journal of Mediterranean Society of Myology and Associazione Italiana di Miologia Founders: Giovanni Nigro and Lucia Ines Comi Three-monthly SCIENTIFIC BOARD Corrado Angelini, “San Camillo” Hospital, Venice, Italy Anders Oldfors, University of Gothenburg, Sweden Enrico Bertini, “Bambino Gesù” Hospital, Rome, Italy Elena Pegoraro, University of Padua, Italy Serge Braun, AFM-Telethon, Paris, France Heinz Reichmann, University Hospital, Technische Kevin P. Campbell, University of Iowa, Iowa City, USA Universität, Dresden, Germany Marinos Dalakas, University of Athens,Greece Filippo Maria Santorelli, IRCCS Stella Maris, Pisa, Italy Feza Deymeer, University of Instanbul, Turkey Serenella Servidei, Catholic University, Rome, Italy Salvatore Di Mauro, Columbia University, New York, USA Piraye Serdaroglu, University of Instanbul, Turkey Denis Duboc, Cochin Hospital, Paris, France Yeuda Shapira, University of Jerusalem, Israel Victor Dubowitz, Imperial College, London, UK Osman I. Sinanovic, University of Tuzla, Bosnia and Massimiliano Filosto, University of Brescia, Italy Herzegovina Fayçal Hentati, University of Tunis, Tunisia Michael Sinnreich, University of Basel, Switzerland Michelangelo Mancuso, University of Pisa, Italy Andoni J. Urtizberea, AP-HP Marin Hospital, Hendaye, Giovanni Meola, University of Milan, Italy France Eugenio Mercuri, Catholic University, Rome, Italy Gert-Jan van Ommen, Leiden University Medical Carlo Minetti, University of Genoa, Italy Center, the Netherlands Clemens Muller, Julius-Maximilians-University, Steve Wilton, University of Western Australia, Perth, Würzburg, Germany Australia Francesco Muntoni, University College London, UK Massimo Zeviani, University of Cambridge, UK Carmen Navarro, University Hospital of Vigo, Spain Janez Zidar, University Medical Centre, Ljubljana, Luis Negrao, University of Coimbra, Portugal Slovenia Gerardo Nigro, University of Campania “L. Vanvitelli ”, Naples, Italy EDITOR-IN-CHIEF COPY EDITOR Luisa Politano, Cardiomyology and Medical Genetics - Valentina Bàrberi Dept. of Experimental Medicine, University of Campania [email protected] “L.Vanvitelli” - Piazza Miraglia - 80138 Naples, IT CO-EDITORS Tel. +39 081 5665300 Lefkos Middleton, Imperial College Healthcare NHS Fax +39 081 5665101 Trust, London, UK [email protected] Giuseppe Novelli, University of Tor Vergata, Rome, IT [email protected] Reinhardt Rüdel, Ulm University, Ulm, DE ASSISTANT EDITOR Gabriele Siciliano, University of Pisa, Pisa, IT Vincenzo Nigro, University of Campania, “L. Vanvitelli”, Haluk Topaloglu, University of Hacettepe, Ankara, TR Naples, IT - [email protected] Antonio Toscano, University of Messina, Messina, IT EDITORIAL STAFF Chiara Fiorillo, G. Gaslini Hospital, Genoa, IT Lorenzo Maggi, Besta Neurological Institute, Milan, IT Giulia Ricci, University of Pisa, Pisa, IT Lucia Ruggiero, University of Naples “Federico II”, Naples, IT Vincenzo Russo, University of Campania, “L. Vanvitelli”, Naples, IT BOARD OF THE MEDITERRANEAN SOCIETY OF MYOLOGY V. Nigro, President H. Topaloglu, Past President L.T. Middleton, G. Siciliano, Vice Presidents K. Christodoulou, Secretary L. Politano, Treasurer E. Abdel-Salam, M. Dalakas, F. Deymeer, F. Hentati, G. Meola, Y. Shapira, E. Tizzano, A. Toscano, J. Zidar Co-opted Members: V. Askanas, S. Di Mauro, R. Rüdel Acta Myologica publishes 4 issues per year in March, June, September, December. The Journal is available in OPEN ACCESS at: www.actamyologica.it Acta Myologica is cited in Index Medicus, MEDLINE, Science Citation Index Expanded, Scopus, DOAJ, Open-J Gate, Free Medical Journals, Index Copernicus, Socolar, WOS. The Journal is available on PubMed Central (http://www.ncbi.nlm.nih.gov/ pmc/journals/1221/). Journal Citation Reports: Impact Factor SJR 2017 0.518; SNIP 2017 0.818 Acta Myologica is available on Google Scholar All correspondence should be addressed to: Mediterranean Society of Myology - Cardiomyology and Medical Genetics - Primo Policlinico - Piazza Miraglia - 80138 Naples, Italy - Tel. +39 081 566 5300 - Fax +39 081 566 5101. Tribunal Authorization, Napoli N. 3827, January 10, 1989 - Journal registered at “Registro pubblico degli Operatori della Comunicazione” (Pacini Editore srl registration n. 6269 - 29/8/2001). The editor remains at the complete disposal of those with rights whom it was impossible to contact, and for any omissions. © Copyright by Gaetano Conte Academy - Mediterranean Society of Myology. All rights reserved. The Journal and the individual contributions contained in it are protected by the copyright of Mediterranean Society and the following terms and condi- tions apply to their use. Photocopies, for personal use (for reading, consultation and study purposes), are permitted within the limits of 15% of each volume or journal issue, excluding advertising, by payment to SIAE of the charge due, in compliance with current regulations on copyright (Law 633, 1941), and specific authorization in writing from CLEARedi: https://www.clearedi.org/topmenu/HOME.aspx. Publisher Via A. Gherardesca - 56121 Pisa, Italy Published by Pacini Editore Srl, Pisa, Italy, June 2020 CONTENTS ORIGINAL ARTICLES Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase Eleonora Mauri, Elena Abati, Olimpia Musumeci, Carmelo Rodolico, Maria Grazia D’Angelo, Massimiliano Mirabella, Matteo Lucchini, Luca Bello, Elena Pegoraro, Lorenzo Maggi, Letizia Manneschi, Chiara Gemelli, Marina Grandis, Angela Zuppa, Sara Massucco, Luana Benedetti, Claudia Caponnetto, Angelo Schenone, Alessandro Prelle, Stefano C. Previtali, Marina Scarlato, Adele D’Amico, Enrico Bertini, Elena M. Pennisi, Laura De Giglio, Marika Pane, Eugenio Mercuri, Tiziana Mongini, Federica Ricci, Angela Berardinelli, Guja Astrea, Sara Lenzi, Roberta Battini, Giulia Ricci, Francesca Torri, Gabriele Siciliano, Filippo M. Santorelli, Alessandra Ariatti, Massimiliano Filosto, Luigia Passamano, Luisa Politano, Marianna Scutifero, Paola Tonin, Barbara Fossati, Chiara Panicucci, Claudio Bruno, Sabrina Ravaglia, Mauro Monforte, Giorgio Tasca, Enzo Ricci, Antonio Petrucci, Lucio Santoro, Lucia Ruggiero, Andrea Barp, Emilio Albamonte, Valeria Sansone, Delia Gagliardi, Gianluca Costamagna, Alessandra Govoni, Francesca Magri, Roberta Brusa, Daniele Velardo, Megi Meneri, Monica Sciacco, Stefania Corti, Nereo Bresolin, Isabella Moroni, Sonia Messina, Antonio Di Muzio, Vincenzo Nigro, Rocco Liguori, Giovanni Antonini, Antonio Toscano, Carlo Minetti, Giacomo Pietro Comi, Italian Association of Myology ....................... 57 Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis Francesca Magri, Roberta Brusa, Luca Bello, Lorenzo Peverelli, Roberto Del Bo, Alessandra Govoni, Claudia Cinnante, Irene Colombo, Francesco Fortunato, Roberto Tironi, Stefania Corti, Nadia Grimoldi, Monica Sciacco, Nereo Bresolin, Elena Pegoraro, Maurizio Moggio, Giacomo Pietro Comi ................... 67 Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy – A pilot study Teresa Kruse, Raoul Heller, Brunhilde Wirth, Julia Glöggler, Claudia D. Wurster, Albert C. Ludolph, Bert Braumann ............................................................... 83 Efficacy and safety of ropivacaine HCl in peribulbar anaesthesia for cataract surgery in patients with myotonic dystrophy type 1 Alberto Palladino, Maria De Bernardo, Marianna Scutifero, Michele Lanza, Silvio De Querquis, Nicola Rosa, Luisa Politano .................................................................... 90 CASE REPORTS Mild myopathic phenotype in a patient with homozygous c.416c > t mutation in tk2 gene George K. Papadimas, Efthimia Vargiami, Pinelopi Dragoumi, Rudy Van Coster, Joel Smet, Sara Seneca, Constantinos Papadopoulos, Evangelia Kararizou, Dimitrios Zafeiriou ....................... 94 Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient Edoardo Malfatti, Denise Cassandrini, Anna Rubegni, Filippo M. Sartorelli, Marcello Villanova ................ 98 MPV promote adherence to nocturnal NIV in a Duchenne patient Anna Annunziata, Antonietta Coppola, Antonella Marotta, Giuseppe Fiorentino ............................ 101 NEWS FROM AROUND THE WORLD AIM ........................................................................................ 105 MSM ....................................................................................... 105 WMS ....................................................................................... 105 FORTHCOMING MEETINGS ................................................................. 106 Instructions for Authors ......................................................................... 107 ACTA MYOLOGICA 2020; XXXIX: p. 57-66 ORIGINAL ARTICLES doi:10.36185/2532-1900-008 Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology
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