{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:10:04Z","timestamp":1756311004658,"version":"3.44.0"},"reference-count":22,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,8,31]]},"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:p>Systemic sclerosis is an autoimmune disease that can result in lung fibrosis, and is strongly associated with the presence of serum anti-topoisomerase-I autoantibodies. A young man with genetic muscular dystrophy caused by titin-cap\/telethonin (<jats:italic>TCAP<\/jats:italic>) gene mutation, developed a severe restrictive lung disease due to a fibrosing interstitial pneumonia secondary to systemic sclerosis with positive anti-topoisomerase-I antibodies. Using amino acid sequence alignment and protein structure modelling, we found that mutant telethonin exposes an amino acid sequence with significant homology to an immunodominant site of topoisomerase-I. Abnormal telethonin results in a loss of integrity of the sarcomere structure, which might result in rhabdomyolysis and abnormal protein exposure to the immune system. Our preliminary analysis suggests a possible role for mutant sarcomere protein telethonin as an immunogenic target recognised by anti-topoisomerase-I antibodies, which could explain the development of systemic sclerosis in this particular patient.<\/jats:p>","DOI":"10.1136\/bcr-2022-250389","type":"journal-article","created":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T11:35:12Z","timestamp":1663068912000},"page":"e250389","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Systemic sclerosis in a patient with muscle dystrophy"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8732-5518","authenticated-orcid":false,"given":"Sara","family":"Moutinho-Pereira","sequence":"first","affiliation":[{"name":"Department of Medicine, Service of Internal Medicine, Hospital Pedro Hispano, Matosinhos, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3525-8231","authenticated-orcid":false,"given":"Eurico","family":"Morais-de-S\u00e1","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S) e Instituto de Biologia Molecular e Celular (IBMC), Porto, Portugal"}]},{"given":"Helena","family":"Greenfield","sequence":"additional","affiliation":[{"name":"Department of Medicine, Service of Internal Medicine, Hospital Pedro Hispano, Matosinhos, Portugal"}]},{"given":"P Ricardo","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Medicine, Service of Internal Medicine, Hospital Pedro Hispano, Matosinhos, Portugal"}]}],"member":"239","published-online":{"date-parts":[[2022,9,13]]},"reference":[{"key":"2025082708482014000_15.9.e250389.1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.21.8492"},{"key":"2025082708482014000_15.9.e250389.2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2003.008037"},{"key":"2025082708482014000_15.9.e250389.3","first-page":"28","article-title":"Molecular recognition patterns of anti-topoisomerase I-antibodies in patients with systemic sclerosis before and after autologous stem cell transplantation","volume":"36 Suppl 113","author":"Glaeser","year":"2018","journal-title":"Clin Exp Rheumatol"},{"key":"2025082708482014000_15.9.e250389.4","doi-asserted-by":"publisher","DOI":"10.1038\/72822"},{"key":"2025082708482014000_15.9.e250389.5","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz268"},{"key":"2025082708482014000_15.9.e250389.6","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky427"},{"key":"2025082708482014000_15.9.e250389.7","doi-asserted-by":"publisher","DOI":"10.1038\/nature04343"},{"key":"2025082708482014000_15.9.e250389.8","doi-asserted-by":"crossref","unstructured":"Gonz\u00e1lez-Jamett AM , Bevilacqua JA , D\u00edaz AC . Hereditary Myopathies. In: Sakuma K , ed. Muscle Cell and Tissue - Current Status of Research Field. London: IntechOpen, 2018. https:\/\/www.intechopen.com\/chapters\/60283","DOI":"10.5772\/intechopen.76076"},{"key":"2025082708482014000_15.9.e250389.9","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1212\/CON.0000000000000809","article-title":"The limb-girdle muscular dystrophies","volume":"25","author":"Wicklund","year":"2019","journal-title":"Continuum"},{"key":"2025082708482014000_15.9.e250389.10","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0902312106"},{"key":"2025082708482014000_15.9.e250389.11","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.141.2.321"},{"key":"2025082708482014000_15.9.e250389.12","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.nut.2018.03.046","article-title":"Prevalence of sarcopenia in systemic sclerosis: assessing body composition and functional disability in patients with systemic sclerosis","volume":"55-56","author":"Siegert","year":"2018","journal-title":"Nutrition"},{"key":"2025082708482014000_15.9.e250389.13","doi-asserted-by":"crossref","first-page":"504","DOI":"10.3390\/jcm7120504","article-title":"Sarcopenia in patients with rheumatic diseases: prevalence and associated risk factors","volume":"7","author":"Barone","year":"2018","journal-title":"J Clin Med"},{"key":"2025082708482014000_15.9.e250389.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.03.008"},{"key":"2025082708482014000_15.9.e250389.15","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1002\/ajmg.a.62188","article-title":"MYH1 is a candidate gene for recurrent rhabdomyolysis in humans","volume":"185","author":"Alsaif","year":"2021","journal-title":"Am J Med Genet A"},{"key":"2025082708482014000_15.9.e250389.16","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/ene.13528","article-title":"Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant","volume":"25","author":"Anandan","year":"2018","journal-title":"Eur J Neurol"},{"key":"2025082708482014000_15.9.e250389.17","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.164.2.670"},{"key":"2025082708482014000_15.9.e250389.18","doi-asserted-by":"publisher","DOI":"10.1084\/jem.182.1.75"},{"key":"2025082708482014000_15.9.e250389.19","doi-asserted-by":"publisher","DOI":"10.1038\/nri724"},{"key":"2025082708482014000_15.9.e250389.20","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5728(00)00322-2"},{"key":"2025082708482014000_15.9.e250389.21","doi-asserted-by":"crossref","DOI":"10.1212\/NXI.0000000000000172","article-title":"Myositis-specific autoantibodies are specific for myositis compared to genetic muscle disease: table","volume":"2","author":"Mammen","year":"2015","journal-title":"Neurol Neuroimmunol Neuroinflamm"},{"key":"2025082708482014000_15.9.e250389.22","doi-asserted-by":"crossref","first-page":"63","DOI":"10.31138\/mjr.33.1.63","article-title":"Genetics and autoimmunity: two sides of the same coin or an epiphenomenon?","volume":"33","author":"Chatterjee","year":"2022","journal-title":"Mediterr J Rheumatol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-250389","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:48:27Z","timestamp":1756309707000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-250389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":22,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022,9,13]]},"published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1136\/bcr-2022-250389"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-250389","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,9]]}}}