{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T12:15:03Z","timestamp":1785327303649,"version":"3.55.0"},"reference-count":36,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Spanish Ministry of Health"},{"name":"Fondos FEDER-ISCIII","award":["PI18\/01525"],"award-info":[{"award-number":["PI18\/01525"]}]},{"name":"Italian Telethon Foundation","award":["GSP18002B"],"award-info":[{"award-number":["GSP18002B"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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 patients with LGMDR3\u20136 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C&amp;gt;T, c.739G&amp;gt;A or c.850C&amp;gt;T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G&amp;gt;A. In LGMDR4 patients the most frequent mutation was c.341C&amp;gt;T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuromuscular centres across Europe. Our study provides important data on the genotype-phenotype correlation that is relevant for the design of natural history studies and upcoming interventional trials in sarcoglycanopathies.<\/jats:p>","DOI":"10.1093\/brain\/awaa228","type":"journal-article","created":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T03:50:37Z","timestamp":1593229837000},"page":"2696-2708","source":"Crossref","is-referenced-by-count":75,"title":["New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy"],"prefix":"10.1093","volume":"143","author":[{"given":"Jorge","family":"Alonso-P\u00e9rez","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Gonz\u00e1lez-Quereda","sequence":"additional","affiliation":[{"name":"U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Bello","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Guglieri","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Gallano","sequence":"additional","affiliation":[{"name":"U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Semplicini","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittoria","family":"Zangaro","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Neuromuscular Disorder Unit, Hospital Sant Joan de Deu, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Ortez","sequence":"additional","affiliation":[{"name":"Neuromuscular Disorder Unit, Hospital Sant Joan de Deu, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo Pietro","family":"Comi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leroy ten","family":"Dam","sequence":"additional","affiliation":[{"name":"Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"De Visser","sequence":"additional","affiliation":[{"name":"Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A J","family":"van der Kooi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Garrido","sequence":"additional","affiliation":[{"name":"Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Santos","sequence":"additional","affiliation":[{"name":"Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[{"name":"Neuromuscular Centre for Children and Adolescents, Department of Paediatric Neurology, University Hospital Essen, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Gangfu\u00df","sequence":"additional","affiliation":[{"name":"Neuromuscular Centre for Children and Adolescents, Department of Paediatric Neurology, University Hospital Essen, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoline","family":"L\u00f8kken","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0900-4908","authenticated-orcid":false,"given":"Jesper Helbo","family":"Storgaard","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institute, Department of Neurology Klinikum M\u00fcnchen Ludwig-Maximilians-University Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Dekomien","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Ruhr-University Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Palmio","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D'Amico","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Politano","sequence":"additional","affiliation":[{"name":"Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine - University of Campania, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Panicucci","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sarkozy","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Abdel-Mannan","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2200-9255","authenticated-orcid":false,"given":"Alicia","family":"Alonso-Jimenez","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristl G","family":"Claeys","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospitals Leuven, KU Leuven, Leuven, Belgium"},{"name":"Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gomez-Andr\u00e9s","sequence":"additional","affiliation":[{"name":"Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d\u2019Hebron Institute of Research (VHIR), Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francina","family":"Munell","sequence":"additional","affiliation":[{"name":"Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d\u2019Hebron Institute of Research (VHIR), Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Costa-Comellas","sequence":"additional","affiliation":[{"name":"Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d\u2019Hebron Institute of Research (VHIR), Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Haberlov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Charles University, 2nd Medical School, University Hospital Motol, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Rohlenov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Charles University, 2nd Medical School, University Hospital Motol, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"De Vos","family":"Elke","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ghent University and University Hospital Ghent, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1328-1812","authenticated-orcid":false,"given":"Jan L","family":"De Bleecker","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ghent University and University Hospital Ghent, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Dominguez-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Padova, Padova, Italy"},{"name":"Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Instituto de Investigaci\u00f3n imas12, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0849-9144","authenticated-orcid":false,"given":"Giorgio","family":"Tasca","sequence":"additional","affiliation":[{"name":"UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Deconinck","sequence":"additional","affiliation":[{"name":"Department of Neurology, Queen Fabiola Children's University Hospital (HUDERF), Free University of Brussels, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Fern\u00e1ndez-Torr\u00f3n","sequence":"additional","affiliation":[{"name":"Neurosciences, BioDonostia Health Research Institute, Hospital Donostia, San Sebasti\u00e1n, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo","family":"L\u00f3pez de Munain","sequence":"additional","affiliation":[{"name":"Neurosciences, BioDonostia Health Research Institute, Hospital Donostia, San Sebasti\u00e1n, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Camacho-Salas","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9la","family":"Melegh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, and Szentagothai Research Center, University of P\u00e9cs, School of Medicine, P\u00e9cs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinga","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, and Szentagothai Research Center, University of P\u00e9cs, School of Medicine, P\u00e9cs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Leonardis","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neurophysiology, University Medical Centre, Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blaz","family":"Koritnik","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neurophysiology, University Medical Centre, Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Garibaldi","sequence":"additional","affiliation":[{"name":"Neuromuscular and Rare Disease Center, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), SAPIENZA Universit\u00e0 di Roma, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Carlos","family":"de Leon-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Universitario Nuestra Se\u00f1ora de la Candelaria, Tenerife, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"Department of Neurology, Raymond-Poincar\u00e9 teaching hospital, centre de r\u00e9f\u00e9rence des maladies neuromusculaires Nord\/Est\/Ile-de-France, AP-HP, Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo","family":"Fraga-Bau","sequence":"additional","affiliation":[{"name":"Department of Neurology, \u00c1lvaro Cunqueiro Hospital, Vigo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Richard","sequence":"additional","affiliation":[{"name":"Integrare (UMR_S951), Inserm, G\u00e9n\u00e9thon, Univ Evry, Universit\u00e9 Paris-Saclay, 91002, Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Illa","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"},{"name":"Department of Neuroscience, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"D\u00edaz-Manera","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"},{"name":"U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Spain"},{"name":"John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,9,1]]},"reference":[{"key":"2020111212330128300_awaa228-B1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1212\/WNL.52.1.176","article-title":"The clinical spectrum of sarcoglycanopathies","volume":"52","author":"Angelini","year":"1999","journal-title":"Neurology"},{"key":"2020111212330128300_awaa228-B2","doi-asserted-by":"crossref","first-page":"3746","DOI":"10.1093\/hmg\/ddu088","article-title":"Unveiling the degradative route of the V247M a-sarcoglycan mutant responsible for LGMD-2D","volume":"23","author":"Bianchini","year":"2014","journal-title":"Hum Mol Genet"},{"key":"2020111212330128300_awaa228-B3","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/S0960-8966(00)00147-4","article-title":"Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients","volume":"10","author":"Calvo","year":"2000","journal-title":"Neuromuscul Disord"},{"key":"2020111212330128300_awaa228-B4","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.jns.2018.08.026","article-title":"Milder forms of alpha-sarcoglycanopathies diagnosed in adulthood by NGS analysis","volume":"394","author":"Cantero","year":"2018","journal-title":"J Neurol Sci"},{"key":"2020111212330128300_awaa228-B5","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1083\/jcb.143.7.2033","article-title":"Molecular organization of sarcoglycan complex in mouse myotubes in culture","volume":"143","author":"Chan","year":"1998","journal-title":"J Cell Biol"},{"key":"2020111212330128300_awaa228-B6","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1083\/jcb.142.6.1461","article-title":"Progressive muscular dystrophy in \u03b1-sarcoglycan-deficient mice","volume":"142","author":"Duclos","year":"1998","journal-title":"J Cell Biol"},{"key":"2020111212330128300_awaa228-B7","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/345315a0","article-title":"Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle","volume":"345","author":"Ervasti","year":"1990","journal-title":"Nature"},{"key":"2020111212330128300_awaa228-B8","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1212\/WNL.48.5.1227","article-title":"Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy","volume":"48","author":"Eymard","year":"1997","journal-title":"Neurology"},{"key":"2020111212330128300_awaa228-B9","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/S0960-8966(02)00280-8","article-title":"LGMD2E patients risk developing dilated cardiomyopathy","volume":"13","author":"Fanin","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"2020111212330128300_awaa228-B10","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1212\/WNL.0b013e3181a1885e","article-title":"Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes","volume":"72","author":"Fanin","year":"2009","journal-title":"Neurology"},{"key":"2020111212330128300_awaa228-B11","first-page":"1713","article-title":"Phenotypic and immunohistochemical characterization of sarcoglycanopathies","volume":"66","author":"Ferreira","year":"2011","journal-title":"Clinics (Sao Paulo)"},{"key":"2020111212330128300_awaa228-B12","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1001\/jamaneurol.2015.2274","article-title":"Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned","volume":"72","author":"Ghaoui","year":"2015","journal-title":"JAMA Neurol"},{"key":"2020111212330128300_awaa228-B13","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.nmd.2018.06.002","article-title":"A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement","volume":"28","author":"Gonzalez-Quereda","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"2020111212330128300_awaa228-B14","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/humu.20642","article-title":"Clinical, molecular, and protein correlations in a large sample of genetically diagnosed italian limb girdle muscular dystrophy patients","volume":"29","author":"Guglieri","year":"2008","journal-title":"Hum Mutat"},{"key":"2020111212330128300_awaa228-B15","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.omtm.2019.04.007","article-title":"An AAV-SGCG dose-response study in a \u03b3-sarcoglycanopathy mouse model in the context of mechanical stress","volume":"13","author":"Israeli","year":"2019","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2020111212330128300_awaa228-B16","doi-asserted-by":"crossref","first-page":"E14","DOI":"10.1002\/mus.26777","article-title":"European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia","volume":"61","author":"Kyriakides","year":"2020","journal-title":"Muscle Nerve"},{"key":"2020111212330128300_awaa228-B17","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1097\/00019052-199810000-00006","article-title":"The sarcoglycan complex in limb-girdle muscular dystrophy","volume":"11","author":"Lim","year":"1998","journal-title":"Curr Opin Neurol"},{"key":"2020111212330128300_awaa228-B18","doi-asserted-by":"crossref","first-page":"e9","DOI":"10.1161\/CIR.0000000000000682","article-title":"Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association","volume":"140","author":"Lipshultz","year":"2019","journal-title":"Circulation"},{"key":"2020111212330128300_awaa228-B19","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1038\/s41436-019-0544-8","article-title":"Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases","volume":"21","author":"Liu","year":"2019","journal-title":"Genet Med"},{"key":"2020111212330128300_awaa228-B20","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1002\/(SICI)1097-4598(199904)22:4<473::AID-MUS8>3.0.CO;2-5","article-title":"Heart involvement in muscular dystrophies due to sarcoglycan gene mutations","volume":"22","author":"Melacini","year":"1999","journal-title":"Muscle Nerve"},{"key":"2020111212330128300_awaa228-B21","doi-asserted-by":"crossref","first-page":"691","DOI":"10.4103\/0028-3886.72164","article-title":"Sarcoglycanopathy Clinical and histochemical characteristics in 66 patients","volume":"58","author":"Nalini","year":"2010","journal-title":"Neurol India"},{"key":"2020111212330128300_awaa228-B22","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.jocn.2019.12.003","article-title":"Very late-onset limb-girdle muscular dystrophy type 2D: a milder form with a normal muscle biopsy","volume":"72","author":"Oliveira Santos","year":"2020","journal-title":"J Clin Neurosci"},{"key":"2020111212330128300_awaa228-B23","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1002\/mus.20349","article-title":"Molecular and cell biology of the sarcoglycan complex","volume":"32","author":"Ozawa","year":"2005","journal-title":"Muscle Nerve"},{"key":"2020111212330128300_awaa228-B24","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/S0960-8966(00)00174-7","article-title":"Evaluation of cardiac and respiratory involvement in sarcoglycanopathies","volume":"11","author":"Politano","year":"2001","journal-title":"Neuromuscul Disord"},{"key":"2020111212330128300_awaa228-B25","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1093\/eurheartj\/ehw128","article-title":"ESC guidelines for the diagnosis and treatment of acute and chronic heart failure: the task force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC) developed with the special contribution of the Heart Failure Association (HFA) of the ESC","volume":"37","author":"Ponikowski","year":"2016","journal-title":"Eur Heart J"},{"key":"2020111212330128300_awaa228-B26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399409001203","article-title":"Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects","volume":"11","author":"Sandon\u00e0","year":"2009","journal-title":"Expert Rev Mol Med"},{"key":"2020111212330128300_awaa228-B27","doi-asserted-by":"crossref","first-page":"1772","DOI":"10.1212\/WNL.0000000000001519","article-title":"Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E","volume":"84","author":"Semplicini","year":"2015","journal-title":"Neurology"},{"key":"2020111212330128300_awaa228-B28","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","article-title":"229th ENMC International Workshop: limb girdle muscular dystrophies\u2014nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017","volume":"28","author":"Straub","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"2020111212330128300_awaa228-B29","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1001\/archneur.65.9.1196","article-title":"Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy","volume":"65","author":"Sveen","year":"2008","journal-title":"Arch Neurol"},{"key":"2020111212330128300_awaa228-B30","doi-asserted-by":"crossref","first-page":"744","DOI":"10.2741\/4418","article-title":"The sarcoglycan complex in skeletal muscle","volume":"21","author":"Tarakci","year":"2016","journal-title":"Front Biosci"},{"key":"2020111212330128300_awaa228-B31","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.nmd.2015.09.010","article-title":"Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults","volume":"25","author":"Tarnopolsky","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"2020111212330128300_awaa228-B32","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1038\/ejhg.2008.9","article-title":"Revised spectrum of mutations in sarcoglycanopathies","volume":"16","author":"Trabelsi","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"2020111212330128300_awaa228-B33","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S0022-510X(99)00040-4","article-title":"Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population","volume":"164","author":"Vainzof","year":"1999","journal-title":"J Neurol Sci"},{"key":"2020111212330128300_awaa228-B34","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s10072-019-03778-7","article-title":"Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies","volume":"40","author":"Vita","year":"2019","journal-title":"Neurol Sci"},{"key":"2020111212330128300_awaa228-B35","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/cge.13597","article-title":"Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy","volume":"96","author":"Winckler","year":"2019","journal-title":"Clin Genet"},{"key":"2020111212330128300_awaa228-B36","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s13023-019-1021-9","article-title":"Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients","volume":"14","author":"Xie","year":"2019","journal-title":"Orphanet J Rare Dis"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/143\/9\/2696\/34280168\/awaa228.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/143\/9\/2696\/34280168\/awaa228.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,12]],"date-time":"2020-11-12T18:29:56Z","timestamp":1605205796000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/143\/9\/2696\/5900350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,1]]},"references-count":36,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2020,9,1]]},"published-print":{"date-parts":[[2020,9,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awaa228","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,9]]},"published":{"date-parts":[[2020,9,1]]}}}