{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T18:04:06Z","timestamp":1779732246972,"version":"3.53.1"},"reference-count":12,"publisher":"BMJ","license":[{"start":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T00:00:00Z","timestamp":1779667200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2026,4,23]]},"abstract":"<jats:p>\n                    Bethlem myopathy is a rare collagen VI-related muscle disorder characterised by slowly progressive proximal weakness and joint contractures. Walking is usually preserved into adulthood and respiratory involvement is relatively mild. A 53-year-old woman had longstanding proximal limb weakness, early contractures and respiratory insufficiency. Despite an apparent clinical improvement on follow-up, initially attributed to immunotherapy, genetic testing ultimately identified a pathogenic\n                    <jats:italic>COL6A1<\/jats:italic>\n                    mutation. This case highlights diagnostic challenges in late-presenting myopathies and emphasises the importance of genetic testing in atypical cases.\n                  <\/jats:p>","DOI":"10.1136\/pn-2026-005105","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T17:20:14Z","timestamp":1779729614000},"page":"pn-2026-005105","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Progressive proximal weakness with contractures and respiratory failure: an unusual presentation of Bethlem myopathy"],"prefix":"10.1136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3000-4953","authenticated-orcid":false,"given":"Sujarnie","family":"Sureshkumar","sequence":"first","affiliation":[{"name":"Institute of Neurology, National Hospital of Sri Lanka, Colombo, Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhumali","family":"Adeshika\u00b9","sequence":"additional","affiliation":[{"name":"Clinical Genetics, National Hospital of Sri Lanka, Colombo, WP, Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bimsara","family":"Senanayake","sequence":"additional","affiliation":[{"name":"Institute of Neurology, National Hospital of Sri Lanka, Colombo, Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,5,25]]},"reference":[{"key":"2026052510200714000_pn-2026-005105v1.1","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1093\/brain\/122.4.649","article-title":"Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures","volume":"122","author":"J\u00f6bsis","year":"1999","journal-title":"Brain (Bacau)"},{"key":"2026052510200714000_pn-2026-005105v1.2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.81"},{"key":"2026052510200714000_pn-2026-005105v1.3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.121027598"},{"key":"2026052510200714000_pn-2026-005105v1.4","first-page":"1447","article-title":"A novel phenotype of Bethlem myopathy due to a stop-codon mutation in the COL6A1 gene","volume":"58","author":"Pepe","year":"2002","journal-title":"Neurology (ECronicon)"},{"key":"2026052510200714000_pn-2026-005105v1.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.01.004"},{"key":"2026052510200714000_pn-2026-005105v1.6","doi-asserted-by":"crossref","first-page":"3625","DOI":"10.1093\/brain\/awt284","article-title":"Natural history of pulmonary function in collagen VI-related myopathies","volume":"136","author":"Foley","year":"2013","journal-title":"Brain (Bacau)"},{"key":"2026052510200714000_pn-2026-005105v1.7","first-page":"307","article-title":"159th ENMC International Workshop on Collagen VI Related Myopathies, Naarden, the Netherlands, 2008 May 23\u201325","volume":"19","author":"Norwood","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"2026052510200714000_pn-2026-005105v1.8","first-page":"637","article-title":"Muscle MRI findings in collagen VI\u2013related myopathies: correlation with clinical and molecular findings","volume":"12","author":"Mercuri","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"2026052510200714000_pn-2026-005105v1.9","first-page":"435","article-title":"Effects on collagen VI integrity of mutations in the N-terminal globular domain of the \u03b13(VI) chain","volume":"277","author":"Zhang","year":"2002","journal-title":"J Biol Chem"},{"key":"2026052510200714000_pn-2026-005105v1.10","first-page":"1436","article-title":"Collagen VI mutations in Bethlem myopathy: implications for diagnosis and pathogenesis","volume":"58","author":"Pepe","year":"2002","journal-title":"Neurology"},{"key":"2026052510200714000_pn-2026-005105v1.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2014.01.022"},{"key":"2026052510200714000_pn-2026-005105v1.12","unstructured":"Fondazione Telethon . Mitochondrial therapy with cyclosporine A in patients with ullrich congenital muscular dystrophy. Fondazione Telethon website; 2009."}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2026-005105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T17:20:15Z","timestamp":1779729615000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2026-005105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,25]]},"references-count":12,"alternative-id":["10.1136\/pn-2026-005105"],"URL":"https:\/\/doi.org\/10.1136\/pn-2026-005105","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,25]]}}}