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Immunohistochemical (IHC) staining of right vastus lateralis muscle biopsy revealed the selective absence of dysferlin leading to a diagnosis of limb-girdle muscular dystrophy type IIB. Dysferlinopathy is a challenging diagnosis due to a varied clinical picture and low incidence. Misdiagnosis is common even in uncomplicated presentations, and this case outlines the need for routine inclusion of IHC and a low threshold for genetic testing, in the workup of complex myopathy.<\/jats:p>","DOI":"10.1136\/bcr-2024-260986","type":"journal-article","created":{"date-parts":[[2024,8,17]],"date-time":"2024-08-17T04:20:15Z","timestamp":1723868415000},"page":"e260986","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-4673-9093","authenticated-orcid":false,"given":"Kieran W","family":"Benn","sequence":"first","affiliation":[{"name":"Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oneil G","family":"Bhalala","sequence":"additional","affiliation":[{"name":"Melbourne Brain Centre at Royal Melbourne Hospital, Parkville, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy J","family":"Day","sequence":"additional","affiliation":[{"name":"The Royal Melbourne Hospital Department of Neurology, Parkville, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher R","family":"French","sequence":"additional","affiliation":[{"name":"Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,8,16]]},"reference":[{"key":"2025082801530397000_17.8.e260986.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2004.03.001"},{"key":"2025082801530397000_17.8.e260986.2","first-page":"207","article-title":"Identification, description and classification","volume":"39","author":"Angelini C.","year":"2020","journal-title":"Acta Myol"},{"key":"2025082801530397000_17.8.e260986.3","unstructured":"Aoki M , T T . 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