{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T12:13:03Z","timestamp":1789560783383,"version":"build-2803163510"},"reference-count":5,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"Suppl 2","license":[{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A 20-year-old male with myotonia congenita presented with recurrent episodes of lower limb deep vein thrombosis. Initial genetic testing confirmed a homozygous mutation in the\n                    <jats:italic toggle=\"yes\">CLCN1<\/jats:italic>\n                    gene. Although rare, a possible link between congenital myotonia and venous thromboembolism (VTE) is explored in this case. Triple-positive antiphospholipid antibodies confirmed a diagnosis of thrombotic antiphospholipid syndrome, necessitating indefinite anticoagulation. Literature review highlights RNA toxicity, mis-splicing, and coagulation activation in myotonic disorders. This is the first known case correlating congenital myotonia with recurrent VTE. Early suspicion and genetic testing are crucial for timely intervention and improved outcomes.\n                  <\/jats:p>","DOI":"10.4103\/aam.aam_672_25","type":"journal-article","created":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T06:00:11Z","timestamp":1776924011000},"page":"S334-S336","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Recurrent Lower Limb Venous Thrombosis in a Young Adult with Myotonia Congenita"],"prefix":"10.4103","volume":"25","author":[{"given":"Suhail","family":"Sanaulla","sequence":"first","affiliation":[{"name":"Department of Hematology, Thrombosis and Hemostasis Unit, KIMSHealth, Thiruvananthapuram, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadeeja","family":"Salim","sequence":"additional","affiliation":[{"name":"Department of Hematology, Thrombosis and Hemostasis Unit, KIMSHealth, Thiruvananthapuram, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Saifudeen","sequence":"additional","affiliation":[{"name":"Department of Hematology, Thrombosis and Hemostasis Unit, KIMSHealth, Thiruvananthapuram, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,4,17]]},"reference":[{"key":"R1-20260916","first-page":"527","article-title":"Are women less susceptible to exercise-induced muscle damage?","volume":"4","author":"Clarkson","year":"2001","journal-title":"Curr Opin Clin Nutr Metab Care"},{"key":"R2-20260916","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/jgf2.709","article-title":"Recurrent pulmonary embolism complicated with myotonic dystrophy type 1","volume":"25","author":"Sedogawa","year":"2024","journal-title":"J Gen Fam Med"},{"key":"R3-20260916","doi-asserted-by":"crossref","first-page":"317","DOI":"10.4103\/0972-2327.104347","article-title":"Pulmonary thromboembolism in a patient with myotonic dystrophy type 1","volume":"15","author":"Cho","year":"2012","journal-title":"Ann Indian Acad Neurol"},{"key":"R4-20260916","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/nri.2016.150","article-title":"Regulation of muscle growth and regeneration by the immune system","volume":"17","author":"Tidball","year":"2017","journal-title":"Nat Rev Immunol"},{"key":"R5-20260916","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1007\/s00421-016-3411-1","article-title":"Genetic variation and exercise-induced muscle damage: Implications for athletic performance, injury and ageing","volume":"116","author":"Baumert","year":"2016","journal-title":"Eur J Appl Physiol"}],"container-title":["Annals of African Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aam.aam_672_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T12:00:56Z","timestamp":1789560056000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aam.aam_672_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,17]]},"references-count":5,"journal-issue":{"issue":"Suppl 2","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/aam.aam_672_25","relation":{},"ISSN":["1596-3519","0975-5764"],"issn-type":[{"value":"1596-3519","type":"print"},{"value":"0975-5764","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,17]]},"assertion":[{"value":"2025-10-25","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-06","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}