{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T21:50:53Z","timestamp":1788558653932,"version":"build-2803163510"},"reference-count":6,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2018,10,25]],"date-time":"2018-10-25T00:00:00Z","timestamp":1540425600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2018,12,14]]},"abstract":"<jats:p>TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C&gt;T p.Q247X, that was originally reported in two members of a Spanish family manifesting cardiac hypertrophy. One of these original patients also had an additional heterozygous mutation in TRIM54 and a much more severe phenotype also involving skeletal muscles, and a digenic inheritance was therefore suggested. Our case report confirms the role of TRIM63 as a new cardiac myopathy gene, although it is unclear whether the homozygous p.Q247X mutation alone is sufficient to cause an additional skeletal myopathy.<\/jats:p>","DOI":"10.3233\/jnd-180350","type":"journal-article","created":{"date-parts":[[2018,10,26]],"date-time":"2018-10-26T12:40:39Z","timestamp":1540557639000},"page":"143-146","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy"],"prefix":"10.1177","volume":"6","author":[{"given":"Manu","family":"Jokela","sequence":"first","affiliation":[{"name":"Department of Neurology, Neuromuscular Research Center, University Hospital and University of Tampere, Finland"},{"name":"Division of Clinical Neurosciences, Turku University Hospital, and University of Turku, Turku, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Baumann","sequence":"additional","affiliation":[{"name":"Department of Neurology, Central Hospital of Lapland, Rovaniemi, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanna","family":"Huovinen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Fimlab Laboratories, Tampere University Hospital, Tampere, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sini","family":"Penttil\u00e4","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Research Center, University Hospital and University of Tampere, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Research Center, University Hospital and University of Tampere, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,10,25]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1126\/science.1065874"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.112.270207"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000259559.48597.32"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv108"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.10.003"},{"key":"ref006","first-page":"e204","volume":"3","author":"Valipakka S","year":"2017","journal-title":"Copy number variation analysis increases the diagnostic yield in muscle diseases"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-180350","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JND-180350","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-180350","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:53:36Z","timestamp":1777506816000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JND-180350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,25]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12,14]]}},"alternative-id":["10.3233\/JND-180350"],"URL":"https:\/\/doi.org\/10.3233\/jnd-180350","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,25]]}}}