ACTA MYOLOGICA (Myopathies, Cardiomyopathies and Neuromyopathies) Vol. XL - March 2021 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 Carmen Navarro, University Hospital of Vigo, Spain Enrico Bertini, “Bambino Gesù” Hospital, Rome, Italy Luis Negrao, University of Coimbra, Portugal Serge Braun, AFM-Telethon, Paris, France Gerardo Nigro, University of Campania “L. Vanvitelli ”, Naples, Italy Kevin P. Campbell, University of Iowa, Iowa City, USA Anders Oldfors, University of Gothenburg, Sweden Diana Conte, University of Bari, ASL Lecce, Italy Orlando Paciello, University of Naples “Federico II”, Naples, Italy Marinos Dalakas, University of Athens,Greece Elena Pegoraro, University of Padua, Italy Feza Deymeer, University of Instanbul, Turkey Heinz Reichmann, University Hospital, Technische Universität, Marianne de Visser, Amsterdam University Medical Centres, Dresden, Germany Amsterdam, The Netherlands Filippo Maria Santorelli, IRCCS Stella Maris, Pisa, Italy Salvatore Di Mauro, Columbia University, New York, USA Serenella Servidei, Catholic University, Rome, Italy Denis Duboc, Cochin Hospital, Paris, France Piraye Serdaroglu, University of Instanbul, Turkey Victor Dubowitz, Imperial College, London, UK Yeuda Shapira, University of Jerusalem, Israel Massimiliano Filosto, University of Brescia, Italy Osman I. Sinanovic, University of Tuzla, Bosnia and Herzegovina Fayçal Hentati, University of Tunis, Tunisia Michael Sinnreich, University of Basel, Switzerland Eric P. Hoffman, Binghamton University, State University of New Francesco Danilo Tiziano, Catholic University of Sacred Heart, York, Binghamton NY, USA Rome, Italy Byron Kakulas, Perron Institute for Neurological and Translational Edoardo Tizzano, Valle Hebron Research Institute (VHIR), Neuroscience, Perth, Western Australia, Australia Barcelona, Spain Michelangelo Mancuso, University of Pisa, Italy Bjarne Udd, University of Helsinki, Helsinki, Finland Frank L. Mastaglia, Perron Institute for Neurological and Andoni J. Urtizberea, AP-HP Marin Hospital, Hendaye, France Translational Science, Queen Elizabeth II Medical Centre, Mariz Vainzof, University of São Paulo, São Paulo, Brazil Nedlands, Western Australia, Australia Gert-Jan van Ommen, Leiden University Medical Center, the Giovanni Meola, University of Milan, Italy Netherlands Eugenio Mercuri, Catholic University, Rome, Italy Giuseppe Vita, Messina University Hospital, Messina, Italy Luciano Merlini, University of Bologna, Bologna, Italy Steve Wilton, University of Western Australia, Perth, Australia Carlo Minetti, University of Genoa, Italy Massimo Zeviani, University of Cambridge, UK Clemens Muller, Julius-Maximilians-University, Würzburg, Germany Janez Zidar, University Medical Centre, Ljubljana, Slovenia Francesco Muntoni, University College London, UK 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 Tel. +39 081 5665300 CO-EDITORS Fax +39 081 5665101 Lefkos Middleton, Imperial College London, 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, PubMed/MedLine, Scopus, Open-J Gate, Free Medical Journals, Socolar. The Jour- nal is available on PubMed Central (http://www.ncbi.nlm.nih.gov/pmc/journals/1221/). Journal Citation Reports: SJR 2019 0.367; SNIP 2019 0.258 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, March 2021 CONTENTS ORIGINAL ARTICLES Muscle manifestations and CK levels in COVID infection: results of a large cohort of patients inside a Pandemic COVID-19 Area Anna De Rosa, Elena Pinuccia Verrengia, Ivan Merlo, Federico Rea, Gabriele Siciliano, Giovanni Corrao, Alessandro Prelle ................................................................................................................................................... 1 Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019) Fabrizio Rao, Giancarlo Garuti, Michele Vitacca, Paolo Banfi, Fabrizio Racca, Renato Cutrera, Martino Pavone, Marina Pedemonte, Matteo Schisano, Stefania Pedroni, Jacopo Casiraghi, Andrea Vianello, Valeria A. Sansone, on behalf of UILDM Respiratory group .................................................................................................................. 8 Read-through approach for stop mutations in Duchenne muscular dystrophy. An update Luisa Politano ....................................................................................................................................................... 43 Daytime alternatives for non-invasive mechanical ventilation in neuromuscular disorders Anna Annunziata, Antonietta Coppola, Giorgio Emanuele Polistina, Pasquale Imitazione, Francesca Simioli, Maurizia Lanza, Rosa Cauteruccio, Giuseppe Fiorentino ...................................................................................... 51 CASE REPORTS Genotype phenotype analysis in a family carrying truncating mutations in the titin gene Leema Reddy Peddareddygari, Ada Baisre-de León, Raji P. Grewal .................................................................... 61 Coexistence of myasthenia gravis and amyotrophic lateral sclerosis in a Bosnian male: an unusual clinical presentation Renata Hodzic, Nermina Piric, Sanela Zukic, Amela Cickusic .............................................................................. 66 NEWS FROM AROUND THE WORLD AIM ........................................................................................................................................................................ 69 MSM ...................................................................................................................................................................... 69 WMS ...................................................................................................................................................................... 69 FORTHCOMING MEETINGS .......................................................................................................................... 70 Instructions for Authors ................................................................................................................................ 71 ACTA MYOLOGICA 2021; XL: p. 1-7 ORIGINAL ARTICLES doi:10.36185/2532-1900-040 Muscle manifestations and CK levels in COVID infection: results of a large cohort of patients inside a Pandemic COVID-19 Area