{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T07:26:17Z","timestamp":1792481177729,"version":"4.5.0"},"reference-count":7,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,3,19]]},"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>\n                  <jats:italic>PYROXD1<\/jats:italic>-associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previous cases having been reported in the literature. The exact role of <jats:italic>PYROXD1<\/jats:italic> in the pathophysiology of LGMD remains unclear. We describe two brothers who presented to the neuromuscular clinic with progressive weakness of their upper and lower limbs over the preceding decades. Our case highlights how recent advancements in genetic sequencing have revolutionised the diagnostic classification process for LGMD and provided opportunities to establish diagnoses for previously unclassified myopathies. We also illustrate how the increased adoption of muscle MRI to identify disease and target muscle biopsy can provide better quality and more informative samples for classification. Finally, our report details the clinical and histopathological findings found in both cases adding valuable data to the currently limited information published on <jats:italic>PYROXD1<\/jats:italic>-associated myopathy.<\/jats:p>","DOI":"10.1136\/bcr-2024-259907","type":"journal-article","created":{"date-parts":[[2024,3,29]],"date-time":"2024-03-29T08:35:44Z","timestamp":1711701344000},"page":"e259907","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["<i>PYROXD1<\/i>-associated myopathy"],"prefix":"10.1136","volume":"17","author":[{"given":"Matthew Selwyn","family":"D'Costa","sequence":"first","affiliation":[{"name":"Medicine, UCL, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bugiardini","sequence":"additional","affiliation":[{"name":"Queen Square Centre for Neuromuscular Diseases, Queen Square UCL Institute of Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashirwad","family":"Merve","sequence":"additional","affiliation":[{"name":"Neuropathology, Great Ormond Street Hospital for Children, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper M","family":"Morrow","sequence":"additional","affiliation":[{"name":"Queen Square Centre for Neuromuscular Diseases, Queen Square UCL Institute of Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,3,29]]},"reference":[{"key":"2025082802123091000_17.3.e259907.1","doi-asserted-by":"crossref","DOI":"10.1186\/s40478-019-0781-8","article-title":"Clinical, histological, and genetic characterization of Pyroxd1-related myopathy","volume":"7","author":"Lornage","year":"2019","journal-title":"Acta Neuropathol Commun"},{"key":"2025082802123091000_17.3.e259907.2","doi-asserted-by":"crossref","unstructured":"Mohassel P , Landon-Cardinal O , Foley AR , et al . Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy. Neurol Neuroimmunol Neuroinflamm 2019;6. doi:10.1212\/NXI.0000000000000523","DOI":"10.1212\/NXI.0000000000000523"},{"key":"2025082802123091000_17.3.e259907.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.05.007"},{"key":"2025082802123091000_17.3.e259907.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.09.005"},{"key":"2025082802123091000_17.3.e259907.5","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1002\/ajmg.a.62148","article-title":"Clinical and genetic characterization of Pyroxd1\u2010Related myopathy patients from Turkey","volume":"185","author":"Daimag\u00fcler","year":"2021","journal-title":"Am J Med Genet A"},{"key":"2025082802123091000_17.3.e259907.6","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1111\/neup.12641","article-title":"Myopathy associated with homozygous Pyroxd1 pathogenic variants detected by genome sequencing","volume":"40","author":"Woods","year":"2020","journal-title":"Neuropathology"},{"key":"2025082802123091000_17.3.e259907.7","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00415-018-9137-8","article-title":"Recessive Pyroxd1 mutations cause adult-onset limb-girdle-type muscular dystrophy","volume":"266","author":"Sainio","year":"2019","journal-title":"J Neurol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-259907","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:12:37Z","timestamp":1756372357000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-259907"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,3,29]]},"published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1136\/bcr-2024-259907"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-259907","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3]]}}}