{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T18:00:07Z","timestamp":1794333607141,"version":"4.9.0"},"reference-count":153,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2019,9,13]],"date-time":"2019-09-13T00:00:00Z","timestamp":1568332800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI17\/00676, PI17\/01841"],"award-info":[{"award-number":["PI17\/00676, PI17\/01841"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010585","name":"Osasun Saila, Eusko Jaurlaritzako","doi-asserted-by":"publisher","award":["2016111091"],"award-info":[{"award-number":["2016111091"]}],"id":[{"id":"10.13039\/501100010585","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019124","name":"Diputaci\u00f3n Foral de Gipuzkoa","doi-asserted-by":"publisher","award":["2018-000117-01-B"],"award-info":[{"award-number":["2018-000117-01-B"]}],"id":[{"id":"10.13039\/501100019124","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb muscles that usually appears in children and young adults and results in loss of ambulation within 20 years after disease onset in most patients. The pathophysiological mechanisms involved in LGMDR1 remain mostly unknown, and to date, there is no effective treatment for this disease. Here, we review clinical and experimental evidence suggesting that dysregulation of Ca2+ homeostasis in the skeletal muscle is a significant underlying event in this muscular dystrophy. We also review and discuss specific clinical features of LGMDR1, CAPN3 functions, novel putative targets for therapeutic strategies, and current approaches aiming to treat LGMDR1. These novel approaches may be clinically relevant not only for LGMDR1 but also for other muscular dystrophies with secondary calpainopathy or with abnormal Ca2+ homeostasis, such as LGMD2B\/LGMDR2 or sporadic inclusion body myositis.<\/jats:p>","DOI":"10.3390\/ijms20184548","type":"journal-article","created":{"date-parts":[[2019,9,13]],"date-time":"2019-09-13T10:32:41Z","timestamp":1568370761000},"page":"4548","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations"],"prefix":"10.3390","volume":"20","author":[{"given":"Jaione","family":"Lasa-Elgarresta","sequence":"first","affiliation":[{"name":"Biodonostia, Neurosciences Area, Group of Neuromuscular Diseases, 20014 San Sebastian, Spain"},{"name":"CIBERNED, Instituto de Salud Carlos III, Ministry of Science, Innovation and Universities, 28031 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Mosqueira-Mart\u00edn","sequence":"additional","affiliation":[{"name":"Biodonostia, Neurosciences Area, Group of Neuromuscular Diseases, 20014 San Sebastian, Spain"},{"name":"CIBERNED, Instituto de Salud Carlos III, Ministry of Science, Innovation and Universities, 28031 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neia","family":"Naldaiz-Gastesi","sequence":"additional","affiliation":[{"name":"Biodonostia, Neurosciences Area, Group of Neuromuscular Diseases, 20014 San Sebastian, Spain"},{"name":"CIBERNED, Instituto de Salud Carlos III, Ministry of Science, Innovation and Universities, 28031 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amets","family":"S\u00e1enz","sequence":"additional","affiliation":[{"name":"Biodonostia, Neurosciences Area, Group of Neuromuscular Diseases, 20014 San Sebastian, Spain"},{"name":"CIBERNED, Instituto de Salud Carlos III, Ministry of Science, Innovation and Universities, 28031 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo","family":"L\u00f3pez de Munain","sequence":"additional","affiliation":[{"name":"Biodonostia, Neurosciences Area, Group of Neuromuscular Diseases, 20014 San Sebastian, Spain"},{"name":"CIBERNED, Instituto de Salud Carlos III, Ministry of Science, Innovation and Universities, 28031 Madrid, Spain"},{"name":"Departmento de Neurosciencias, Universidad del Pa\u00eds Vasco UPV\/EHU, 20014 San Sebastian, Spain"},{"name":"Osakidetza Basque Health Service, Donostialdea Integrated Health Organisation, Neurology Department, 20014 San Sebastian, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2409-8263","authenticated-orcid":false,"given":"Ainara","family":"Vallejo-Illarramendi","sequence":"additional","affiliation":[{"name":"Biodonostia, Neurosciences Area, Group of Neuromuscular Diseases, 20014 San Sebastian, Spain"},{"name":"CIBERNED, Instituto de Salud Carlos III, Ministry of Science, Innovation and Universities, 28031 Madrid, Spain"},{"name":"Grupo Neurociencias, Departmento de Pediatr\u00eda, Hospital Universitario Donostia, UPV\/EHU, 20014 San Sebastian, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,9,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/35036035","article-title":"The Versatility and Universality of Calcium Signalling","volume":"1","author":"Berridge","year":"2000","journal-title":"Nat. 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