{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:15:00Z","timestamp":1792005300286,"version":"4.4.0"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>Hypertrophic cardiomyopathy with severe left ventricular diastolic dysfunction has been associated with marked exercise intolerance and poor prognosis. However, molecular pathogenesis of this phenotype remains unexplained in a large proportion of cases.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              We performed whole exome sequencing as an initial genetic test in a large Czech family with 3 males affected by nonobstructive hypertrophic cardiomyopathy with severe left ventricular diastolic dysfunction in end-stage disease. A novel frameshift mutation of four-and-a-half LIM domain 1 gene (\n              <jats:italic>FHL1<\/jats:italic>\n              ) (c.599_600insT; p.F200fs32X) was detected in these individuals. The mutation does not affect transcription, splicing, and stability of\n              <jats:italic>FHL1<\/jats:italic>\n              mRNA and results in production of truncated FHL1 protein, which is contrary to heart tissue homogenate not detectable in frozen tissue sections of myocardial biopsy of affected males. The identified mutation cosegregated also with abnormal ECG and with 1 case of apical hypertrophic cardiomyopathy in heterozygous females. Although skeletal muscle involvement is a common finding in FHL1-related diseases, we could exclude myopathy in all mutation carriers.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>\n              We identified a novel\n              <jats:italic>FHL1<\/jats:italic>\n              mutation causing isolated hypertrophic cardiomyopathy with X-chromosomal inheritance.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.113.000245","type":"journal-article","created":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T15:27:12Z","timestamp":1381505232000},"page":"543-551","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":47,"title":["Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene"],"prefix":"10.1161","volume":"6","author":[{"given":"Hana","family":"Hartmannova","sequence":"first","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milos","family":"Kubanek","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marek","family":"Sramko","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Piherova","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Noskova","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katerina","family":"Hodanova","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktor","family":"Stranecky","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pristoupilova","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Sovova","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Marek","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Maluskova","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr","family":"Ridzon","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Kautzner","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Hulkova","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Kmoch","sequence":"additional","affiliation":[{"name":"From the Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic (H.H., L.P., L.N., K.H., V.S., A.P., J.S., H.H., S.K.); Departments of Cardiology (M.K., M.S., T.M., J.K.) and Pathology (J.M.), Institute for Clinical and Experimental Medicine, Prague, Czech Republic; and Department of Neurology, Thomayer\u2019s Hospital, Prague, Czech Republic (P.R.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/heart.87.3.247"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1253\/circj.71.897"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2009.07.057"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.0000124723.16433.31"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-011-0106-6"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.105.583500"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.02.061"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200316336"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01062.x"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.01.001"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1582-4934.2010.01176.x"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.004"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21839"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.015"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds157"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2009.01.006"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2005.10.005"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1067\/mje.2002.120202"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(97)00144-7"},{"key":"e_1_3_3_21_2","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1109\/CIC.2005.1588172","article-title":"Time resolved three-dimensional automated segmentation of the left ventricle.","volume":"32","author":"Heiberg E","year":"2005","unstructured":"Heiberg E, Wigstrom L, Carlsson M, Bolger AF, Karlsson M. 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