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In BMD, there are a higher number of deletions, and small mutations are more frequent than duplications. In BMD, we found deletions in 78%, duplications in 9% and small mutations in 13%. In DMD patients, we found deletions in 57%, duplications in 11% and small mutations in 32%. We genotyped the DMD gene in our Italian cohort of 1902 patients (BMD n = 740, 39% DMD n =1162, 61%) within a nationwide study involving 11 diagnostic centers in a 10-year window (2008–2017).

27Dubowitz Neuromuscular Unit, Institute of Child Health, University College London, London, United Kingdomĭystrophinopathies are inherited diseases caused by mutations in the dystrophin ( DMD) gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials.26Pediatric Neurology, Catholic University, Rome, Italy.25Department of Precision Medicine, University of Campania “Luigi Vanvitelli, Naples, Italy.24Cardiomiology and Medical Genetics, University of Campania “Luigi Vanvitelli, Naples, Italy.23Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy.22Department of Neurosciences, University of Padua, Padua, Italy.Gemelli IRCCS, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy

21UOC Neurofisiopatologia, Fondazione Policlinico Universitario A.

Gemelli, Fondazione Policlinico Universitario A.

19Department of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center, Messina, Italy.

18Department of Biomedical and Neuro Motor Sciences, University of Bologna, Bologna, Italy.

17Child Neurology Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.

16Child Neurology and Psychiatry Unit, “Casimiro Mondino” Foundation, Pavia, Italy.

15Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Turin, Italy.

14Neurorehabilitation Unit, Department Biomedical Sciences for Health, University of Milan, Milan, Italy.

13Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

12Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

11Department of Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.10Unit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Troina, Italy.9Clinica Pediatrica e Malattie Rare, Brotzu, Cagliari, Italy.8Laboratory of Genetics and Genomics, Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.7Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.6Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.5Center of Translational and Experimental Myology, IRCCS Gaslini, Genova, Italy.4Paediatric Neurology and Muscular Diseases Unit, University of Genoa and G.3Laboratory of Medical Genetics, IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy.

2Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.

1Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

Marcella Neri 1‡, Rachele Rossi 1‡, Cecilia Trabanelli 1‡, Antonio Mauro 1, Rita Selvatici 1, Maria Sofia Falzarano 1, Noemi Spedicato 1, Alice Margutti 1, Paola Rimessi 1, Fernanda Fortunato 1, Marina Fabris 1, Francesca Gualandi 1, Giacomo Comi 2, Silvana Tedeschi 3, Manuela Seia 3, Chiara Fiorillo 4, Monica Traverso 4, Claudio Bruno 5, Emiliano Giardina 6, Maria Rosaria Piemontese 7, Giuseppe Merla 7, Milena Cau 8, Monica Marica 9, Carmela Scuderi 10, Eugenia Borgione 10, Alessandra Tessa 11, Guia Astrea 11, Filippo Maria Santorelli 11, Luciano Merlini 12, Marina Mora 13, Pia Bernasconi 13, Sara Gibertini 13, Valeria Sansone 14, Tiziana Mongini 15, Angela Berardinelli 16, Antonella Pini 17, Rocco Liguori 18, Massimiliano Filosto 3, Sonia Messina 19, Gianluca Vita 19, Antonio Toscano 19, Giuseppe Vita 19, Marika Pane 20, Serenella Servidei 21, Elena Pegoraro 22, Luca Bello 22, Lorena Travaglini 23, Enrico Bertini 23, Adele D'Amico 23, Manuela Ergoli 24, Luisa Politano 24, Annalaura Torella 25, Vincenzo Nigro 25, Eugenio Mercuri 20,26 and Alessandra Ferlini 1,27*†

Foster and allen ultimate collection torrent