{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:20:17Z","timestamp":1791872417434,"version":"4.3.4"},"reference-count":88,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T00:00:00Z","timestamp":1694822400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002160","name":"Jain Foundation","doi-asserted-by":"publisher","award":["TREM-01"],"award-info":[{"award-number":["TREM-01"]}],"id":[{"id":"10.13039\/100002160","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different functions, such as membrane repair and vesicle fusion, T-tubule development and maintenance, Ca2+ signalling, and the regulation of various molecules. Miyoshi Myopathy type 1 (MMD1) and Limb\u2013Girdle Muscular Dystrophy 2B\/R2 (LGMD2B\/LGMDR2) are two possible clinical presentations, yet the same mutations can cause both presentations in the same family. They are therefore grouped under the name dysferlinopathy. Onset is typically during the teenage years or young adulthood and is characterized by a loss of Achilles tendon reflexes and difficulty in standing on tiptoes or climbing stairs, followed by a slow progressive loss of strength in limb muscles. The MRI pattern of patient muscles and their biopsies show various fibre sizes, necrotic and regenerative fibres, and fat and connective tissue accumulation. Recent tools were developed for diagnosis and research, especially to evaluate the evolution of the patient condition and to prevent misdiagnosis caused by similarities with polymyositis and Charcot\u2013Marie\u2013Tooth disease. The specific characteristic of dysferlinopathy is dysferlin deficiency. Recently, mouse models with patient mutations were developed to study genetic approaches to treat dysferlinopathy. The research fields for dysferlinopathy therapy include symptomatic treatments, as well as antisense-mediated exon skipping, myoblast transplantation, and gene editing.<\/jats:p>","DOI":"10.3390\/jcm12186011","type":"journal-article","created":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T23:32:27Z","timestamp":1694993547000},"page":"6011","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Portrait of Dysferlinopathy: Diagnosis and Development of Therapy"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8264-4090","authenticated-orcid":false,"given":"Camille","family":"Bouchard","sequence":"first","affiliation":[{"name":"D\u00e9partement de M\u00e9decine Mol\u00e9culaire, Universit\u00e9 Laval, Qu\u00e9bec, QC G1V 0A6, Canada"},{"name":"Centre de Recherche du Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec, QC G1E 6W2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9404-9195","authenticated-orcid":false,"given":"Jacques P.","family":"Tremblay","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9decine Mol\u00e9culaire, Universit\u00e9 Laval, Qu\u00e9bec, QC G1V 0A6, Canada"},{"name":"Centre de Recherche du Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec, QC G1E 6W2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5565","DOI":"10.1242\/dev.02155","article-title":"Normal myoblast fusion requires myoferlin","volume":"132","author":"Doherty","year":"2005","journal-title":"Development"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"207","DOI":"10.2183\/pjab.75.207","article-title":"Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy","volume":"75","author":"Matsumura","year":"1999","journal-title":"Proc. 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