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ACTA MYOLOGICA (Myopathies, Cardiomyopathies and Neuromyopathies) ISSN 2532-1900 ACTA MYOLOGICA (Myopathies, Cardiomyopathies and Neuromyopathies) Vol. XXXVII - June 2018 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 Valerie Askanas Giuseppe Novelli Lefkos Middleton Reinhardt Rüdel Official Journal of Mediterranean Society of Myology and Associazione Italiana di Miologia Founders: Giovanni Nigro and Lucia Ines Comi Three-monthly EDITORIAL BOARD Corrado Angelini, Padova Francesco Muntoni, London 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 Elena Pegoraro, Padova Marinos Dalakas, Athens Heinz Reichmann, Dresden Feza Deymeer, Instanbul Filippo Maria Santorelli, Pisa Salvatore Di Mauro, New York Serenella Servidei, Roma Denis Duboc, Paris Piraye Serdaroglu, Instanbul Victor Dubowitz, London Yeuda Shapira, Jerusalem Massimiliano Filosto, Brescia Osman I. Sinanovic, Tuzla Fayçal Hentati, Tunis Michael Sinnreich, Montreal Michelangelo Mancuso, Pisa Andoni J. Urtizberea, Hendaye Giovanni Meola, Milano Gert-Jan van Ommen, Leiden Eugenio Mercuri, Roma Steve Wilton, Perth Carlo Minetti, Genova Massimo Zeviani, London Clemens Müller, Würzburg Janez Zidar, Ljubliana EDITOR-IN-CHIEF CO-EDITORS Luisa Politano, Napoli Lefkos Middleton, Nicosia Giuseppe Novelli, Roma ASSISTANT EDITOR Reinhardt Rüdel, Ulm Vincenzo Nigro, Napoli Gabriele Siciliano, Pisa Haluk Topaloglu, Ankara Antonio Toscano, Messina EDITORIAL STAFF TBA BOARD OF THE MEDITERRANEAN SOCIETY OF MYOLOGY H. Topaloglu, 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, 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/). 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. Editor in Chief: Luisa Politano 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. © 1981 Gaetano Conte Academy. All rights reserved. The Journal and the individual contributions contained in it are protected by the copyright of Gaetano Conte Academy and the following terms and conditions apply to their use: 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 Srl - Pisa, Italy, June 2018 CONTENTS ORIGINAL ARTICLES Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy Joana Ribeiro, Olinda Rebelo, Ana Fernández-Marmiesse and Luís Negrão .............................. 117 Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene Gilbert Wunderlich, Anna Brunn, Hülya-Sevcan Daimagüler, Tarik Bozoglu, Gereon R. Fink, Helmar C. Lehmann, Joachim Weis and Sebahattin Cirak ............................................................. 121 PROCEEDINGS OF THE XIII CONGRESS OF MEDITERRANEAN SOCIETY OF MYOLOGY Avanos, Turkey – June 27-29, 2018 Scientific Programme ......................................................................... 131 Abstracts of invited lectures .................................................................... 149 Abstracts of oral communications ............................................................... 154 Abstracts of poster communications ............................................................. 159 Author Index ............................................................................... 184 NEWS FROM AROUND THE WORLD AIM ...................................................................................... 188 MSM ..................................................................................... 188 WMS ..................................................................................... 188 FORTHCOMING MEETINGS ............................................................... 189 Instructions for Authors ....................................................................... 192 Acta Myologica • 2018; XXXVII: p. 117-120 ORIGINAL ARTICLES Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy Joana Ribeiro1, Olinda Rebelo1, Ana Fernández-Marmiesse2 and Luís Negrão1 1 Neuromuscular Disease Unit, Coimbra University and Hospital Centre, Coimbra, Portugal; 2 Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas (UDyTEMC), Hospital Clínico Universitario Santiago de Compostela A group of heterogeneous muscle diseases are caused by dystro- cardiomyopathy. Becker muscular dystrophy (BMD) in phin gene (DMD) mutations. We hereby present a male patient the middle spectrum of clinical severity of dystrophi- with a diagnosis of symptomatic dilated cardiomyopathy at 44 years-old who developed, soon after, weakness of distal right nopathies, together with DMD, present cardiac involve- upper limb. At the age of 58, neurological examination revealed ment – in DMD it is a late feature in the disease course, severe atrophy of right thenar muscles, flexion contractures on whilst in BMD it can be the presenting and most disa- the right elbow, wrist and fingers, bilateral calf hypertrophy, bling feature (2, 3). myotatic areflexia in the upper limbs and hyporeflexia in the The dystrophinopathies result from mutations in the lower limbs. Manual muscle examination showed distal weak- DMD gene located in the X-chromosome (Xp21.2-p21). ness of right upper limb muscles, severe on abductor pollicis brevis and extensor pollicis longus, and milder on interossei, Clinical phenotype can be predicted in most patients by finger extensors and brachioradialis muscles. Further testing the reading-frame rule. Out-of-frame mutations cause ab- revealed CK of 1500 U/L, a myopathic pattern on electromyo- sence of dystrophin expression in muscle originating a graphy, and myopathic changes on right deltoid muscle biopsy, severe DMD phenotype, whereas in-frame mutations re- with immunohistochemistry showing focal sub-expression of sult in a milder BMD phenotype (2, 3). The most frequent dystrophin. Cardiac workup revealed a severe reduction in left mutations are deletions and duplications, while point mu- ventricular ejection fraction, with a left ventricle of increased dimensions and global hypo-contractibility. A next-generation tations are responsible for 25% of the genetic changes in sequencing based panel for muscular diseases was performed the gene (4). and a nonsense mutation (c.C7525T) was identified in exon 51 We hereby present a patient with distal asymmetric of DMD gene, present in 70% of the gene readings (consistent weakness of the upper limbs and dilated cardiomyopathy, with mosaicism). caused by a novel somatic mosaic mutation in the DMD gene. Key words: dystrophin gene, dilated cardiomyopathy, next genera- tion sequencing Clinical findings The patient was a Portuguese male, aged 58 years- old, born from a non-consanguineous couple. His family Introduction history was positive for coronary heart disease in his elder sister, due to proven atherosclerotic heart disease. The dystrophinopathies comprise a spectrum of dif- He had a personal history of type 2 diabetes mellitus, ferent muscular phenotypes, with variable involvement essential hypertension, dyslipidaemia and paroxysmal of skeletal and cardiac muscle (1). The mildest end of atrial fibrillation. At the age of 44, after an event of pre- the spectrum includes the phenotypes of asymptomatic cordial pain, a symptomatic dilated cardiomyopathy was hyper-CK, while the severe end includes Duchenne mus- diagnosed. It was initially managed with medical treat- cular dystrophy (DMD) and DMD-associated dilated ment but, due to its symptomatic progression reaching Adress for correspondence: Luís Negrão, Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Centre, Praceta Mota Pinto, 3000-075 Coimbra, Portugal. E-mail: [email protected] 117 Joana Ribeiro et al. New York Heart Association class IV, a cardiodisfibrilla- tory function revealed a moderate
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