Pegoraro Division of Neurosciences, College of Padova O. Musumeci, UOC Neurologia e malattie neuromuscolari, Policlinico G. Martino, MessinaL. Vercelli, Centre for Neuromuscular Health conditions "P. Peirolo", CS-6093 custom synthesis Department of Neurosciences, University of Torino, Torino, Italy, R. Parini, Unusual Metabolic Conditions Unit, San Gerardo Healthcare facility, Monza, Italy and Alessandra Zincone, Dept of Neurology, San Gerardo Medical center, Monza, Italy; G. Greco, Section of Healthcare, Surgical and Neurological Sciences, University of Siena, Siena, Italy M. Maioli Neuromuscular Device, Office of Cardiovascular Science and Neurology, College of Cagliari, Sardinia, Italy V. Lucchini and M. Ripolone, UO Malattie Neuromuscolari e Uncommon ?Fondazione IRCCS Ca‘ Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, Universit?degli Studi di Milano, Italia. G. P. Comi, Fondazione IRCCS Ca‘ Granda Osp. Policlinico, Dept. of Neurology, Centro Dino Ferrari, University of Milan, Italy; M. B. Pasanisi, Immunology and Muscular Pathology Unit, purchase Cortodoxone National Neurological CS-6065 site Institute Carlo Besta, Milan, Italy; R. Piras, Neuromuscular Unit, Office of Cardiovascular Science and Neurology, University of Cagliari, Italy; E. Barca, Department of Neurosciences, Psychiatry and Anaesthesiology, College of Messina, Messina, Italy; G. Ricci, Neurological Institute, University of Pisa, Pisa, Italy; F. Giannini, Departments of Neurosciences, University of Siena, Italy. Author details Department of Molecular Medicine, College of Pavia, Pavia, Italy. 2IRCCS Neurological Institute C. Mondino, Pavia, Italy. 3Regional Centre for Rare Conditions, College Clinic Santa Maria della Misericordia, Udine, Italy. 4 IRCCS San Camillo, Lido Venice, Italy. 5Centre for Neuromuscular Ailments "P. Peirolo", Division of Neurosciences, University of Torino, Torino, Italy. 6 Immunology and Muscular Pathology Device, National Neurological Institute "Carlo Besta", Milan, Italy. 7Department of Neurology, Fondazione IRCCS Ca‘ Granda Ospedale Policlinico, Centro Dino Ferrari, University of Milan, Milan, Italy. 8Centre for Neuromuscular Sickness, CeSI, College `G. d‘Annunzio‘, CFI-400945 (free base) Chieti, Italy. 9Clinical Neurology, Area for Neuromuscular Conditions and Neuropathies, College Clinic Spedali Civili, Brescia, Italy. 10Department of Clinical, Surgical and Neurological Sciences, University of Siena, Siena, Italy. eleven Neuromuscular Unit, Division of Cardiovascular Science and Neurology, University of Cagliari, Sardinia, Italy. 12Rare Metabolic Illnesses Unit, Fondazione MBBM San Gerardo Clinic, Monza, Italy. 13Department of Neurological Sciences and Vision, Part of Neurology, University of Verona, Verona, Italy. 14Department of Neurology, Universit?Cattolica, Rome, Italy. fifteen Neurological Institute, College of Pisa, Pisa, Italy. 16Department of Pulmonary rehabilitation, Fondazione IRCCS S. Maugeri, Pavia, Italy. seventeen Office of Brain and.Lysis and revision of the first manuscript: MC. Structural modelling and revision of the original manuscript: CS. Writer from the paper: PDF, SR and CD. Common coordinator: CD. All authors read through and approved the final manuscript. Acknowledgements We gratefully acknowledge the help by "AIG" to P. De F.; we ackonowledge Telethon Network Genetic Biobank GTB12001, Eurobiobank and BBMRNR PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/24298588 for many from the samples presented by CA and MM and Dr. Amelia Morrone (Meyer Institute, Florence, Italy) for her contribution in molecular assessment. The PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/11755113 Italian GSDII Group C. Semplicini, E. Pegoraro Department of Neurosciences, College of Padova O. Musumeci, UOC Neurologia e malattie neuromuscolari, Policlinico G. Martino, MessinaL. Vercelli, Centre for Neuromuscular Conditions "P. Peirolo", Office of Neurosciences, College of Torino, Torino, Italy, R. Parini, Exceptional Metabolic Health conditions Device, San Gerardo Clinic, Monza, Italy and Alessandra Zincone, Dept of Neurology, San Gerardo Medical center, Monza, Italy; G.