{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T14:13:23Z","timestamp":1779804803313,"version":"3.53.1"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,5,15]]},"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:p>\n                    A man in his 60s presented with progressive, symmetric weakness of the shoulder and thigh girdles despite normal creatine kinase and electromyography findings. Lumbar spine MRI revealed only age-appropriate degenerative changes, insufficient to explain his symptoms. A targeted 60-gene next-generation sequencing panel identified a heterozygous\n                    <jats:italic>MYOT<\/jats:italic>\n                    c.179C&gt;T (p.Ser60Phe) variant, confirming\n                    <jats:italic>MYOT<\/jats:italic>\n                    -related myofibrillar myopathy. Cardiac evaluation demonstrated mild aortic-root dilatation, mitral regurgitation and frequent premature atrial contractions. The patient underwent supervised eccentric-strengthening physiotherapy with stable function over 1 year. This case underscores that\n                    <jats:italic>MYOT<\/jats:italic>\n                    myopathy can present with preserved enzyme levels and normal electrodiagnostic studies, risking diagnostic delay if clinicians rely solely on conventional testing. Early gene-panel sequencing in patients with unexplained proximal weakness can expedite diagnosis, guide cardiac surveillance and inform family cascade testing.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-270825","type":"journal-article","created":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T13:50:19Z","timestamp":1779803419000},"page":"e270825","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3675-4910","authenticated-orcid":false,"given":"Keshav","family":"Viradia","sequence":"first","affiliation":[{"name":"Biotechnology, Rutgers, The State University of New Jersey, New Brunswick, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish","family":"Viradia","sequence":"additional","affiliation":[{"name":"Hunterdon Neurology, Annandale, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,5,26]]},"reference":[{"key":"2026052606501215000_19.5.e270825.1","doi-asserted-by":"crossref","DOI":"10.1017\/S1462399408000793","article-title":"Molecular pathology of myofibrillar myopathies","volume":"10","author":"Ferrer","year":"2008","journal-title":"Expert Rev Mol Med"},{"key":"2026052606501215000_19.5.e270825.2","doi-asserted-by":"publisher","DOI":"10.1086\/344532"},{"key":"2026052606501215000_19.5.e270825.3","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1093\/brain\/awh576","article-title":"Myotilinopathy: refining the clinical and myopathological phenotype","volume":"128","author":"Oliv\u00e9","year":"2005","journal-title":"Brain (Bacau)"},{"key":"2026052606501215000_19.5.e270825.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.04.009"},{"key":"2026052606501215000_19.5.e270825.5","doi-asserted-by":"crossref","first-page":"275","DOI":"10.3233\/JND-150143","article-title":"Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy","volume":"3","author":"Rudolf","year":"2016","journal-title":"J Neuromuscul Dis"},{"key":"2026052606501215000_19.5.e270825.6","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1093\/brain\/awh052","article-title":"Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients","volume":"127","author":"Selcen","year":"2004","journal-title":"Brain (Bacau)"},{"key":"2026052606501215000_19.5.e270825.7","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1159\/000533976","article-title":"Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels","volume":"15","author":"Sar\u0131kaya Uzan","year":"2024","journal-title":"Mol Syndromol"},{"key":"2026052606501215000_19.5.e270825.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-0982-8"},{"key":"2026052606501215000_19.5.e270825.9","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14413"},{"key":"2026052606501215000_19.5.e270825.10","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s10048-014-0410-4","article-title":"Novel recessive myotilin mutation causes severe myofibrillar myopathy","volume":"15","author":"Schessl","year":"2014","journal-title":"Neurogenetics"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-270825","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T13:50:20Z","timestamp":1779803420000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-270825"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2026,5,26]]},"published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1136\/bcr-2025-270825"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-270825","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]}}}