{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T09:44:54Z","timestamp":1772012694754,"version":"3.50.1"},"reference-count":17,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Heart"],"accepted":{"date-parts":[[1999,7,5]]},"published-print":{"date-parts":[[1999,11,1]]},"abstract":"<jats:sec>\n                  <jats:title>AIM<\/jats:title>\n                  <jats:p>To screen for a mutation of the cardiac troponin T gene in two families where there had been sudden deaths without an increase in left ventricular mass but with myocardial disarray suggesting hypertrophic cardiomyopathy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec sec-type=\"methods\">\n                  <jats:title>METHODS<\/jats:title>\n                  <jats:p>DNA from affected individuals from both families was used to screen the cardiac troponin T gene on an exon by exon basis. Mutation screening was achieved by polymerase chain reaction and direct sequencing. Where appropriate, a mutation was confirmed by restriction digest.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS<\/jats:title>\n                  <jats:p>A novel missense mutation of exon 9 was found in the affected individuals of one of the families. This mutation at amino acid 94 resulted in the substitution of arginine for leucine and was not found in 100 normal control samples. A mutation of the cardiac troponin T gene was excluded in the second family.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSIONS<\/jats:title>\n                  <jats:p>A mutation of the gene for the sarcomeric protein cardiac troponin T can cause familial hypertrophic cardiomyopathy with marked myocyte disarray and frequent premature sudden death in the absence of myocardial hypertrophy at clinical or macroscopic level.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/hrt.82.5.621","type":"journal-article","created":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T15:31:45Z","timestamp":1413991905000},"page":"621-624","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":84,"title":["A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy"],"prefix":"10.1136","volume":"82","author":[{"given":"A","family":"Varnava","sequence":"first","affiliation":[{"name":"Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Baboonian","sequence":"additional","affiliation":[{"name":"Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Davison","sequence":"additional","affiliation":[{"name":"Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"de Cruz","sequence":"additional","affiliation":[{"name":"Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P M","family":"Elliott","sequence":"additional","affiliation":[{"name":"Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M J","family":"Davies","sequence":"additional","affiliation":[{"name":"Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W J","family":"McKenna","sequence":"additional","affiliation":[{"name":"Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1999,11,1]]},"reference":[{"key":"2025091922200053000_82.5.621.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198703263161305"},{"key":"2025091922200053000_82.5.621.2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.51.4.361"},{"key":"2025091922200053000_82.5.621.3","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.63.5.287"},{"key":"2025091922200053000_82.5.621.4","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90274-I"},{"key":"2025091922200053000_82.5.621.5","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90054-X"},{"key":"2025091922200053000_82.5.621.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng1295-438"},{"key":"2025091922200053000_82.5.621.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng1295-434"},{"key":"2025091922200053000_82.5.621.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-63"},{"key":"2025091922200053000_82.5.621.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng0897-379"},{"key":"2025091922200053000_82.5.621.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(96)00530-X"},{"key":"2025091922200053000_82.5.621.11","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ph.58.030196.002311"},{"key":"2025091922200053000_82.5.621.12","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.137.1.131"},{"key":"2025091922200053000_82.5.621.13","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1161\/01.RES.71.6.1404","article-title":"Accumulation and assembly of myosin in hypertrophic cardiomyopathy with the 403 Arg to Gln beta-myosin heavy chain mutation.","volume":"71","author":"Vybiral","year":"1992","journal-title":"Circ Res"},{"key":"2025091922200053000_82.5.621.14","doi-asserted-by":"crossref","first-page":"2861","DOI":"10.1172\/JCI116530","article-title":"Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.","volume":"91","author":"Cuda","year":"1993","journal-title":"J Clin Invest"},{"key":"2025091922200053000_82.5.621.15","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1172\/JCI117795","article-title":"Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.","volume":"95","author":"Lankford","year":"1995","journal-title":"J Clin 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