New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of pat...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2020-09, Vol.143 (9), p.2696-2708
Hauptverfasser:	Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Child Child, Preschool Cohort Studies Europe - epidemiology Female Genetic Association Studies - methods Humans Male Middle Aged Muscular Dystrophies, Limb-Girdle - diagnosis Muscular Dystrophies, Limb-Girdle - epidemiology Muscular Dystrophies, Limb-Girdle - genetics Retrospective Studies Sarcoglycanopathies - diagnosis Sarcoglycanopathies - epidemiology Sarcoglycanopathies - genetics Young Adult
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