{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T20:11:24Z","timestamp":1773951084317,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T00:00:00Z","timestamp":1605916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>To describe a large series of patients with \u03b1, \u03b2, and \u03b3 sarcoglycanopathies (LGMD\u2010R3, R4, and R5) and study phenotypic correlations and disease progression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A multicentric retrospective study in four centers in the Paris area collecting neuromuscular, respiratory, cardiac, histologic, and genetic data. The primary outcome of progression was age of loss of ambulation (LoA); disease severity was established according to LoA before or after 18\u00a0years of age. Time\u2010to\u2010event analysis was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One hundred patients (54 \u03b3\u2010SG; 41 \u03b1\u2010SG; 5 \u03b2\u2010SG) from 80 families were included. The \u03b3\u2010SG patients had earlier disease onset than \u03b1\u2010SG patients (5.5 vs. 8\u00a0years; <jats:italic>p<\/jats:italic>\u00a0=\u00a00.022) and \u03b2\u2010SG patients (24.4\u00a0years). Axial muscle weakness and joint contractures were frequent and exercise intolerance was observed. At mean follow\u2010up of 22.9\u00a0years, 65.3% of patients were wheelchair\u2010bound (66.7% \u03b1\u2010SG, 67.3% \u03b3\u2010SG, 40% \u03b2\u2010SG). Dilated cardiomyopathy occurred in all sarcoglycanopathy subtypes, especially in \u03b3\u2010SG patients (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.01). Thirty patients were ventilated and six died. Absent sarcoglycan protein expression on muscle biopsy and younger age at onset were associated with earlier time to LoA (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.021 and <jats:italic>p<\/jats:italic>\u00a0=\u00a00.002). Age at onset was an independent predictor of both severity and time to LoA (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.0004 and <jats:italic>p<\/jats:italic>\u00a0=\u00a00.009). The \u03b1\u2010SG patients showed genetic heterogeneity, whereas &gt;90% of \u03b3\u2010SG patients carried the homozygous c.525delT frameshift variant. Five new mutations were identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This large multicentric series delineates the clinical spectrum of patients with sarcoglycanopathies. Age at disease onset is an independent predictor of severity of disease and LoA, and should be taken into account in future clinical trials.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14592","type":"journal-article","created":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T07:49:16Z","timestamp":1602661756000},"page":"660-669","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Clinical correlations and long\u2010term follow\u2010up in 100 patients with sarcoglycanopathies"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6799-022X","authenticated-orcid":false,"given":"R.","family":"Guimar\u00e3es\u2010Costa","sequence":"first","affiliation":[{"name":"Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1112-7464","authenticated-orcid":false,"given":"G.","family":"Fern\u00e1ndez\u2010Eulate","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Wahbi","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Leturcq","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics Cochin Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Malfatti","sequence":"additional","affiliation":[{"name":"Department of Neurology APHP Raymond Poincar\u00e9 Hospital Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Versailles Paris\u2010Saclay U 1179 INSERM, Versailles Saint\u2010Quentin\u2010en\u2010Yvelines University Saint\u2010Aubin France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Behin","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Leonard\u2010Louis","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Desguerre","sequence":"additional","affiliation":[{"name":"Developmental Diseases Clinic Necker\u2010Enfants Malades Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Barnerias","sequence":"additional","affiliation":[{"name":"Developmental Diseases Clinic Necker\u2010Enfants Malades Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. C.","family":"Nougues","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Armand\u2010Trousseau Children\u2019s Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Isapof","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Armand\u2010Trousseau Children\u2019s Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Estournet\u2010Mathiaud","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Pediatric Neurology and ICU Department Raymond Poincar\u00e9 Hospital APHP Paris\u2010Saclay. UVSQ U1179 INSERM Garches France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Quijano\u2010Roy","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Pediatric Neurology and ICU Department Raymond Poincar\u00e9 Hospital APHP Paris\u2010Saclay. UVSQ U1179 INSERM Garches France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Fayssoil","sequence":"additional","affiliation":[{"name":"Pneumology Intensive Care Unit Raymond Poincar\u00e9 Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Orlikowski","sequence":"additional","affiliation":[{"name":"Resuscitation Department and Domiciliary Ventilation Unit Raymond Poincar\u00e9 Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Fauroux","sequence":"additional","affiliation":[{"name":"Pneumology Department Armand\u2010Trousseau Children\u2019s Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Richard","sequence":"additional","affiliation":[{"name":"INTEGRARE, Genethon, Inserm Evry University Paris\u2010Saclay University Evry France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Semplicini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. B.","family":"Romero","sequence":"additional","affiliation":[{"name":"Neuromuscular Morphology Unit Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Querin","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Eymard","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4489-4718","authenticated-orcid":false,"given":"P.","family":"Lafor\u00eat","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Neurology Department Raymond\u2010Poincar\u00e9 Hospital Garches France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Nord\u2010Est\/Ile\u2010de\u2010France Neuromuscular Reference Center Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199702273360904"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cphy.c140048"},{"key":"e_1_2_7_4_1","first-page":"1","article-title":"Genetic basis of limb\u2010girdle muscular dystrophies: the 2014 update","volume":"33","author":"Nigro V","year":"2014","journal-title":"Acta Myol."},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.9"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25443"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/01677063.2017.1346093"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000235854.77716.6c"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<392::AID-AJMG7>3.0.CO;2-0"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.e67"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.2019"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-316736"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001519"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24233"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181a1885e"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccn.2005.05.020"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.5.1227"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20642"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050926"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)65354-0"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20422"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2010.207464"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50801"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2011.01608.x"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21823"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.8.1176"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2017_25"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0148264"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0001385"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00174-7"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399409001203"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2011.07.001"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14592","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.14592","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14592","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T06:01:58Z","timestamp":1693720918000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.14592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,21]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1111\/ene.14592"],"URL":"https:\/\/doi.org\/10.1111\/ene.14592","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,21]]},"assertion":[{"value":"2020-07-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}