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ACTA MYOLOGICA (Myopathies, Cardiomyopathies and Neuromyopathies) ISSN 1128-2460 AC T Established in 1982 as Cardiomyology A M YOLOGICA ACTA MYOLOGICA (Myopathies, Cardiomyopathies and Neuromyopathies) Vol. XXXIV - May 2015 Official Journal of Mediterranean Society of Myology and Associazione Italiana di Miologia CB PISA D VOL. XXXIV N. 1 - 2015 XXXIV N. VOL. Founders: Giovanni Nigro and Lucia Ines Comi Four-monthly EDITOR-IN-CHIEF Giovanni Nigro ASSISTANT EDITOR managing EDITOR Vincenzo Nigro Luisa Politano .L. 353/2003 conv. in L. 27/02/2004 n° 46 art. 1, comma 1, comma 1, 27/02/2004 1, in L. n° 46 art. 353/2003 .L. conv. D CO-EDITORS Valerie Askanas Giuseppe Novelli Lefkos Middleton Reinhardt Rüdel HISTORical STUDIES EDITOR Georges Serratrice ALIANE SPA - Spedizione in Abbonamento Postale - Postale Abbonamento - Spedizione in ALIANE SPA T E I T POS Official Journal of Mediterranean Society of Myology and Associazione Italiana di Miologia Founders: Giovanni Nigro and Lucia Ines Comi Four-monthly EDITORIAL BOARD Ekram Abdel-Salam, Cairo Clemens Müller, Würzburg Corrado Angelini, Padova Francesco Muntoni, Londra Enrico Bertini, Roma Carmen Navarro, Vigo Serge Braun, Paris Gerardo Nigro, Napoli Kate Bushby, Newcastle upon Tyne Anders Oldfors, Göteborg Kevin P. Campbell, Iowa City Eijiro Ozawa, Tokyo Marinos Dalakas, Athens Heinz Reichmann, Dresden Feza Deymeer, Instanbul Serenella Servidei, Roma Salvatore Di Mauro, New York Piraye Serdaroglu, Instanbul Denis Duboc, Paris Yeuda Shapira, Jerusalem Victor Dubowitz, London Osman I. Sinanovic, Tuzla King W. Engel, Los Angeles Michael Sinnreich, Montreal Michel Fardeau, Paris Andoni J. Urtizberea, Hendaye Irena Hausmanowa-Petrusewicz, Warszawa Gert-Jan van Ommen, Leiden Fayçal Hentati, Tunis Lord John Walton of Detchant, Oxford Byron A. Kakulas, Perth Steve Wilton, Perth Frank Lehmann-Horn, Ulm Klaus Zerres, Aachen Carlo Minetti, Genova Janez Zidar, Ljubliana EDITOR-IN-CHIEF CO-EDITORS Giovanni Nigro, Napoli Valerie Askanas, Los Angeles Lefkos Middleton, Nicosia ASSISTANT EDITOR Giuseppe Novelli, Roma Vincenzo Nigro, Napoli Reinhardt Rüdel, Ulm MANAGING EDITOR HISTORICAL STUDIES EDITOR Luisa Politano, Napoli Georges Serratrice, Marseille BOARD OF THE MEDITERRANEAN SOCIETY OF MYOLOGY G. Nigro, President L.T. Middleton, G. Serratrice, Vice-presidents Y. Shapira, Secretary L. Politano, Treasurer E. Abdel-Salam, M. Dalakas, F. Deymeer, F. Hentati, G. Meola, G. Siciliano, E. Tizzano, A. Toscano, J. Zidar Co-opted Members: V. Askanas, S. Di Mauro, K. Engel, I. Hausmanowa-Petrusewicz, R. Rüdel Acta Myologica is cited in Index Medicus/MEDLINE, Medicine, Excerpta Medica Database (EMBASE), Index Copernicus and monitored for coverage in Chemical Abstracts Service. The Journal is available on PubMed Central (http://www.ncbi.nlm.nih.gov/pmc/journals/1221/). Journal printed with total chlorine free paper and water varnishing. Acta Myologica publishes 3 issues per year in May/July, September/October, December. Editor in Chief: Giovanni Nigro Tribunal Authorization, Napoli N. 3827, January 10, 1989 The editor remains at the complete disposal of those with rights whom it was impossible to contact, and for any omissions. Photocopies, for personal use, are permitted within the limits of 15% of each publication by following payment to SIAE of the charge due, article 68, paragraphs 4 and 5 of the Law April 22, 1941, No 633. Reproductions for professional or commercial use or for any other other purpose other than personal use can be made following a written request and specific authorization in writing from AIDRO, Corso di Porta Romana, 108, 20122 Milan, Italy, E-mail: [email protected] and web site: www.aidro.org. Publisher Via A. Gherardesca 56121 Pisa, Italy Printed by Industrie Grafiche Pacini Editore S.p.A. - Pisa - May 2015 CONTENTS EDITORIAL Increasing awareness of Myology: it’s time for its recognition as an independent discipline within the Medical Sciences Giovanni Nigro, Luisa Politano .................................................................. 1 ORIGINAL ARTICLES Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages Gabriele Siciliano, Costanza Simoncini, Stefano Giannotti, Virna Zampa, Corrado Angelini and Giulia Ricci ..... 3 Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene Antonella Taglia, Roberta Petillo, Paola D’Ambrosio, Esther Picillo, Annalaura Torella, Chiara Orsini, Manuela Ergoli, Marianna Scutifero, Luigia Passamano, Alberto Palladino, Gerardo Nigro and Luisa Politano .... 9 LETTER TO THE EDITOR Guenter Scheuerbrandt ....................................................................... 14 PROCEEDINGS OF THE XII CONGRESS OF MEDITERRANEAN SOCIETY OF MYOLOGY Naples, Italy – May 18-20,2015 Program (Summary) ......................................................................... 17 Abstracts of invited lectures and oral communications ............................................... 18 Invited MSM Congress closing lecture ............................................................ 29 Abstracts of poster communications (in alphabetical order of the first Author) ............................. 31 Author Index ............................................................................... 35 PROCEEDINGS OF THE XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy – May 20-23,2015 Program (Summary) ......................................................................... 39 Abstracts of invited lectures .................................................................... 40 Abstracts of oral communications (in alphabetical order of the first Author) ............................... 50 Muscle Club Session ......................................................................... 62 Abstracts of poster communications (in alphabetical order of the first Author) ............................. 64 Author Index ............................................................................... 86 NEWS FROM AROUND THE WORLD MSM ..................................................................................... 90 GCA ...................................................................................... 90 AIM ...................................................................................... 90 THE ITALIAN NETWORK FOR LAMINOPATHIES .................................................. 90 LGMD-EuroNet ............................................................................. 91 WMS ..................................................................................... 91 FORTHCOMING MEETINGS ............................................................... 92 Acta Myologica • 2015; XXXIV: p. 1-2 EDITORIAL Increasing awareness of Myology: it’s time for its recognition as an independent discipline within the Medical Sciences In 1891, Charcot and Bouchard – two eminent French search in PubMed, under the heading “muscle “ reported, scientists – published a famous textbook of Internal Med- at the date of 13 April 2015, 912119 papers and under icine (1), which included large chapters dedicated to all the heading “muscle disorders” 168,931 papers, in a simi- branches of Medicine and Neurology. The medical spe- lar fashion the first scientific journals Muscle & Nerve, cialties, as we know them today, are all derived from the edited by Bradley in the USA in 1964, Acta Myologica Internal Medicine during the 19th century. J.M. Charcot, edited in Naples by Giovanni Nigro and Lucia Ines Co- who first argued the need for a specialist to direct the mi in 1982, and Neuromuscular Disorders, edited by V. Chair of Mental Disorders at the Salpetrière Hospital in Dubowitz in London in 1990, were rapidly followed in Paris, performed all necessary steps – scientific, institu- the last few years by the creation of Skeletal Muscles, ed- tional and political – to claim and obtain for himself the ited by K. Campbell in 2011, European Journal of Trans- creation of the first Chair of Nervous and Mental Dis- lational Myology-BAM edited in Padua by U. Carraro in eases of the Old Continent in 1882 (2, 3). The same fate 2014, and the Journal of Neuromuscular Diseases, edited befell during the 20th century in other disciplines, such as by Bonnemann and Lochmuller both in 2014. Cardiology, Endocrinology, Gastroenterology, Pulmonol- Furthermore the textbook “Myology” edited by An- ogy etc. just to mention the most important, and, more re- drew Engel (that is) considered the “bible” for lovers of cently, Microbiology, Hygien, Genetics, … and Myology. Myology, has reached its third edition. Myology (from latin myos “muscle” and logia, “lo- In the meantime the attention to the care needs of people gy”) is the science that studies muscles, their physical living with muscle diseases increased so that many Clinical structure, type of fibers, specific function, and the con- Centers of Myology were created, achievive international nections between different muscle groups. Interest of fame. To be mentioned among others the Center of Car- myology are also muscle disorders. For most of the 20th diomyology and Medical Genetics, at the Second Uni- century, Myology was considered as a little part of Neu- versity of Naples, founded by Giovanni Nigro in 1976, rology, while currently it is recognized as an autonomous the Institute of Myology initiated in Paris, in 1996, and discipline both at the research and the medical level. the Dubowitz Neuromuscular Centre (DNC) in London. From a research point of view, we have witnessed the All these Centres provide clinical assessment, diagnostic birth and flourishing of new scientific
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