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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort |
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| Authors: | Quijano-Roy Susana Haberlova Jana Castiglioni Claudia Vissing John Munell Francina Rivier François Stojkovic Tanya Malfatti Edoardo Gómez García de la Banda Marta Tasca Giorgio Costa Comellas Laura Benezit Audrey Amthor Helge Dabaj Ivana Gontijo Camelo Clara Laforêt Pascal Rendu John Romero Norma B. Cavassa Eliana Fattori Fabiana Beroud Christophe Zídková Jana Leboucq Nicolas Løkken Nicoline Sanchez-Montañez Ángel Ortega Ximena Kynčl Martin Metay Corinne Gómez-Andrés David Carlier Robert Y. |
| Affiliation: | 1.APHP, GH Université Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France ;2.Université de Versailles, U1179 INSERM-UVSQ, Versailles, France ;3.Department of Paediatric Neurology, Motol University Hospital, Prague, Czech Republic ;4.Pediatric Neurology Department, Clinica Las Condes, Santiago de Chile, Chile ;5.Instituto Nacional de Rehabilitación Pedro Aguirre Cerda, Santiago de Chile, Chile ;6.Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark ;7.Pediatric Neurology, Vall d’Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d’Hebron, Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain, Passeig de la Vall d’Hebron 119-129, 08035 ;8.Department of Pediatric Neurology and Reference Center for Neuromuscular Diseases AOC, CHU Montpellier, Montpellier, France ;9.PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France ;10.APHP, Neuromuscular Reference Center, Pitié-Salpêtrière Hospital, Institute of Myology, Paris, France ;11.Univ Paris Est UPE, INSERM, U955 IMRB, APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Hôpital Henri Mondor, Créteil, France ;12.Unità Operativa Complessa Di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia ;13.CHU de Rouen, Service de Néonatologie, Réanimation pédiatrique, Neuropédiatrie et Éducation Fonctionnelle de L’enfant, INSERM U 1245, ED497, 76000, Rouen, France ;14.Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil ;15.Nord/Est/Ile de France Neuromuscular Reference Center, PHENIX FHU, Hôpital Raymond-Poincaré, AP-HP. INSERM U1179, Garches, France ;16.Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, Grenoble, France ;17.Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France ;18.Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France ;19.Unit for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, Rome, Italy ;20.APHM, Laboratoire de Génétique Moléculaire, Hôpital TIMONE Enfants; Aix Marseille University, INSERM, MMG, Marseille, France ;21.Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic ;22.Radiology Department, CHU Montpellier, Montpellier, France ;23.Pediatric Neuroradiology, Radiology Department, Hospital Universitari Vall d’Hebron, Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain ;24.Diagnostic Imaging Service, Clinica Las Condes, Santiago de Chile, Chile ;25.Department of Radiology, Motol University Hospital, Prague, Czech Republic ;26.AP-HP, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Centre de Génétique Moléculaire et Chromosomique, GH Pitié Salpêtrière, Paris, France ;27.Sorbonne Université - Inserm UMRS974, Centre de Recherche en Myologie, GH Pitié-Salpêtrière, Paris, France ;28.APHP, GH Université Paris-Saclay, DMU Smart Imaging, Medical Imaging Department, Raymond Poincaré Teaching Hospital, Garches, France ; |
| Abstract: | Journal of Neurology - LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of... |
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