{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T20:37:48Z","timestamp":1792442268776,"version":"4.5.0"},"reference-count":64,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T00:00:00Z","timestamp":1631491200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100018436","name":"Spanish Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018436","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fondos FEDER-ISCIII","award":["PI18\/01525 to J.D.-M"],"award-info":[{"award-number":["PI18\/01525 to J.D.-M"]}]},{"name":"Rio Hortega","award":["CM19\/00178"],"award-info":[{"award-number":["CM19\/00178"]}]},{"DOI":"10.13039\/501100004587","name":"Acci\u00f3n Estrat\u00e9gica de Salud (EAS), Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011019","name":"NKFIH","doi-asserted-by":"publisher","award":["119540"],"award-info":[{"award-number":["119540"]}],"id":[{"id":"10.13039\/501100011019","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FIS","award":["PI8\/01585"],"award-info":[{"award-number":["PI8\/01585"]}]},{"name":"ISCIII and FEDER, \u2018Una manera de hacer Europa\u2019"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Sarcoglycanopathies include 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. Delta-sarcoglycanopathy (LGMDR6) is the least frequent and is considered an ultra-rare disease. Our aim was to characterize the clinical and genetic spectrum of a large international cohort of LGMDR6 patients and to investigate whether or not genetic or protein expression data could predict a disease\u2019s severity.<\/jats:p>\n               <jats:p>This is a retrospective study collecting demographic, genetic, clinical and histological data of patients with genetically confirmed LGMDR6 including protein expression data from muscle biopsies.<\/jats:p>\n               <jats:p>We contacted 128 paediatric and adult neuromuscular units around the world that reviewed genetic data of patients with a clinical diagnosis of a neuromuscular disorder. We identified 30 patients with a confirmed diagnosis of LGMDR6 of which 23 patients were included in this study. Eighty-seven per cent of the patients had consanguineous parents. Ninety-one per cent of the patients were symptomatic at the time of the analysis. Proximal muscle weakness of the upper and lower limbs was the most common presenting symptom. Distal muscle weakness was observed early over the course of the disease in 56.5% of the patients. Cardiac involvement was reported in five patients (21.7%) and four patients (17.4%) required non-invasive ventilation. Sixty per cent of patients were wheelchair-bound since early teens (median age of 12.0 years). Patients with absent expression of the sarcoglycan complex on muscle biopsy had a significant earlier onset of symptoms and an earlier age of loss of ambulation compared to patients with residual protein expression.<\/jats:p>\n               <jats:p>This study confirmed that delta-sarcoglycanopathy is an ultra-rare neuromuscular condition and described the clinical and molecular characteristics of the largest yet-reported collected cohort of patients. Our results showed that this is a very severe and quickly progressive disease characterized by generalized muscle weakness affecting predominantly proximal and distal muscles of the limbs. Similar to other forms of sarcoglycanopathies, the severity and rate of progressive weakness correlates inversely with the abundance of protein on muscle biopsy.<\/jats:p>","DOI":"10.1093\/brain\/awab301","type":"journal-article","created":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T12:23:05Z","timestamp":1631190185000},"page":"596-606","source":"Crossref","is-referenced-by-count":34,"title":["Clinical and genetic spectrum of a large cohort of patients with \u03b4-sarcoglycan muscular dystrophy"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8866-5186","authenticated-orcid":false,"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, Department of Medicine, Barcelona 08041, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Gonz\u00e1lez-Quereda","sequence":"additional","affiliation":[{"name":"Genetics Department, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Barcelona 08041, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini, Genova 16147, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Panicucci","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini, Genova 16147, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afagh","family":"Alavi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran 13871, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahriar","family":"Nafissi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran 14117, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yalda","family":"Nilipour","sequence":"additional","affiliation":[{"name":"Pediatric Pathology Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran 14117, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmar","family":"Zanoteli","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas Michielon de Augusto","family":"Isihi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital das Cl\u00ednicas HCFMUSP, Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9la","family":"Melegh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, and Szentagothai Research Center, University of Pecs, School of Medicine, Pecs 07522, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinga","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, and Szentagothai Research Center, University of Pecs, School of Medicine, Pecs 07522, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuria","family":"Muelas","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), Spain"},{"name":"Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Polit\u00e8cnic La Fe, Neuromuscular Reference Centre, ERN-EURO-NMD, Valencia, 46026, Spain"},{"name":"Neuromuscular and Ataxias Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, Valencia 46026, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0532-2872","authenticated-orcid":false,"given":"Juan J","family":"V\u00edlchez","sequence":"additional","affiliation":[{"name":"Genetics Department, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Barcelona 08041, Spain"},{"name":"Neuromuscular and Ataxias Research Group, Instituto de Investigaci\u00f3n Sanitaria La Fe, Valencia 46026, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario Emilio","family":"Dourado","sequence":"additional","affiliation":[{"name":"Department of Integrative Medicine, Federal University of Rio Grande do Norte, Campus Universit\u00e1rio Lagoa Nova, 59012-300 Natal, RN, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naz","family":"Kadem","sequence":"additional","affiliation":[{"name":"University of Health Sciences, Antalya Research and Training Hospital, Department of Paediatric Neurology, Antalya 07100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gultekin","family":"Kutluk","sequence":"additional","affiliation":[{"name":"University of Health Sciences, Antalya Research and Training Hospital, Department of Paediatric Neurology, Antalya 07100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6729-9746","authenticated-orcid":false,"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh 14611, Saudi Arabia"},{"name":"Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore 54770, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Younus","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Membrane Biology and Beijing Key Laboratory of Cardiometabolic Molecular Medicine, Institute of Molecular Medicine and Peking-Tsinghua Center for Life Sciences and PKU-IDG\/McGovern Institute for Brain Research, Peking University, 100871 Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegorano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Padova, Padova 35112, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3075-6525","authenticated-orcid":false,"given":"Luca","family":"Bello","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Padova, Padova 35112, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas O","family":"Crawford","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Su\u00e1rez-Calvet","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona, Department of Medicine, Barcelona 08041, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Guglieri","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne NE1 3BZ, 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Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), Spain"},{"name":"The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,9,13]]},"reference":[{"issue":"8","key":"2022041812224307700_awab301-B1","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 \u2013 Nomenclature and reformed classification Naarden, the Netherlands, 17\u201319 March 2017","volume":"28","author":"Straub","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"2022041812224307700_awab301-B2","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/cge.13597","article-title":"Clinicogenetic lessons from 370 patients with 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