Francesca Magri1, Vincenzo Nigro2,3, Corrado Angelini4, Tiziana Mongini5, Marina Mora6, Isabella Moroni7, Antonio Toscano8, Maria Grazia D'angelo9, Giuliano Tomelleri10, Gabriele Siciliano11, Giulia Ricci11, Claudio Bruno12, Stefania Corti1, Olimpia Musumeci8, Giorgio Tasca13, Enzo Ricci14, Mauro Monforte14, Monica Sciacco15, Chiara Fiorillo16, Sandra Gandossini9, Carlo Minetti12, Lucia Morandi6, Marco Savarese2,3, Giuseppina Di Fruscio2,3, Claudio Semplicini17, Elena Pegoraro17, Alessandra Govoni1, Roberta Brusa1, Roberto Del Bo1, Dario Ronchi1, Maurizio Moggio15, Nereo Bresolin1, Giacomo Pietro Comi1. 1. Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy. 2. Department of General Pathology, University of Naples, Naples, Italy. 3. Telethon Institute of Genetics and Medicine, Naples, Italy. 4. Foundation S. Camillo Hospital, IRCCS, Lido, Venice, Italy. 5. Department of Neurosciences Rita Levi Montalcini, University of Torino, Torino, Italy. 6. Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy. 7. Child Neurology Unit, IRCCS Foundation Istituto Neurologico C. Besta, Milan, Italy. 8. Department of Clinically and Experimental Medicine, University of Messina, Italy. 9. Neuromuscular Unit-IRCCS E. Medea Bosisio Parini, Bosisio Parini, Italy. 10. Department of Neurological Sciences, Verona, Italy. 11. Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. 12. Center of Myology and Neurodegenerative Diseases, Istituto Giannina Gaslini, Genova. 13. Don Carlo Gnocchi ONLUS Foundation, Rome, Italy. 14. Department of Neurology, Policlinico Universitario A. Gemelli, University Cattolica del Sacro Cuore of Rome, Rome, Italy. 15. Dino Ferrari Centre, Neuromuscular and Rare Diseases Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy. 16. IRCCS Fondazione Stella Maris, Calambrone, Italy. 17. Department of Neurosciences, University of Padua, Padua, Italy.
Abstract
INTRODUCTION: Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular definition is fundamental for prognostic and therapeutic purposes. METHODS: We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective and prospective data and compared each LGMD subtype for differential diagnosis purposes. RESULTS: LGMD types 2A and 2B are the most frequent forms in Italy. The ages at disease onset, clinical progression, and cardiac and respiratory involvement can vary greatly between each LGMD subtype. In a set of extensively studied patients, targeted next-generation sequencing (NGS) identified mutations in 36.5% of cases. CONCLUSION: Detailed clinical characterization combined with muscle tissue analysis is fundamental to guide differential diagnosis and to address molecular tests. NGS is useful for diagnosing forms without specific biomarkers, although, at least in our study cohort, several LGMD disease mechanisms remain to be identified. Muscle Nerve 55: 55-68, 2017.
INTRODUCTION: Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular definition is fundamental for prognostic and therapeutic purposes. METHODS: We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective and prospective data and compared each LGMD subtype for differential diagnosis purposes. RESULTS: LGMD types 2A and 2B are the most frequent forms in Italy. The ages at disease onset, clinical progression, and cardiac and respiratory involvement can vary greatly between each LGMD subtype. In a set of extensively studied patients, targeted next-generation sequencing (NGS) identified mutations in 36.5% of cases. CONCLUSION: Detailed clinical characterization combined with muscle tissue analysis is fundamental to guide differential diagnosis and to address molecular tests. NGS is useful for diagnosing forms without specific biomarkers, although, at least in our study cohort, several LGMD disease mechanisms remain to be identified. Muscle Nerve 55: 55-68, 2017.
Authors: Jakub Piotr Fichna; Anna Macias; Marcin Piechota; Michał Korostyński; Anna Potulska-Chromik; Maria Jolanta Redowicz; Cezary Zekanowski Journal: Hum Genomics Date: 2018-07-03 Impact factor: 4.639
Authors: David Israeli; Jérémie Cosette; Guillaume Corre; Fatima Amor; Jérôme Poupiot; Daniel Stockholm; Marie Montus; Bernard Gjata; Isabelle Richard Journal: Mol Ther Methods Clin Dev Date: 2019-05-10 Impact factor: 6.698
Authors: Dimitra G Georganopoulou; Vasilis G Moisiadis; Firhan A Malik; Ali Mohajer; Tanya M Dashevsky; Shirley T Wuu; Chih-Kao Hu Journal: Protein J Date: 2021-06-10 Impact factor: 2.371