{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:37:07Z","timestamp":1787506627223,"version":"build-2736575974"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[1997,5,6]]},"abstract":"<jats:p>\n                    <jats:italic>Background<\/jats:italic>\n                    Friedreich's ataxia (FA), the most common inherited ataxia, is associated frequently with cardiac hypertrophy, and death is often cardiac related. Recently, the disease has been associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the gene encoding frataxin on chromosome 9.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Methods and Results<\/jats:italic>\n                    We studied 44 consecutive patients with FA, determined the size of GAA expansions in the frataxin gene, and examined the relation between the genotype and cardiac phenotype assessed by M-mode and two-dimensional echocardiography. All the patients were homozygous for the mutation. The size of the GAA expansion on the smaller allele varied from 270 to 1200. We found a correlation between the size of GAA expansion and the left ventricular wall thickness (\n                    <jats:italic>r<\/jats:italic>\n                    =.51,\n                    <jats:italic>P<\/jats:italic>\n                    &lt;.001) and the left ventricular mass index (\n                    <jats:italic>r<\/jats:italic>\n                    =.45,\n                    <jats:italic>P<\/jats:italic>\n                    =.002). Left ventricular hypertrophy was observed in 81% of patients with a number of GAA repeats above the median value of 770 compared with only 14% in the other group (\n                    <jats:italic>P<\/jats:italic>\n                    =.002).\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Conclusions<\/jats:italic>\n                    These data demonstrate that in FA, the severity of left ventricular hypertrophy is related to the number of GAA repeats. These results suggest that abnormalities of the gene encoding frataxin, a protein of unknown function highly expressed in the normal heart, may play an important role in the modulation of cardiac hypertrophy.\n                  <\/jats:p>","DOI":"10.1161\/01.cir.95.9.2247","type":"journal-article","created":{"date-parts":[[2012,6,11]],"date-time":"2012-06-11T20:41:02Z","timestamp":1339447262000},"page":"2247-2249","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":73,"title":["Correlation Between Left Ventricular Hypertrophy and GAA Trinucleotide Repeat Length in Friedreich's Ataxia"],"prefix":"10.1161","volume":"95","author":[{"given":"Richard","family":"Isnard","sequence":"first","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Kalotka","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Du\u0308rr","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille","family":"Cosse\u0301e","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miche\u0300le","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franc\u0327oise","family":"Pousset","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Thomas","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Koenig","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Komajda","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Association Claude Bernard (R.I., H.K., F.P., D.T., M. Komajda), Fe\u0301de\u0301ration de Neurologie, INSERM 289 (A.D., A.B.), Ho\u0302pital Pitie\u0301-Salpe\u0301trie\u0300re, Paris; Institut de Ge\u0301ne\u0301tique et de Biologie Mole\u0301culaire et Cellulaire, Illkirch, France (M.C., M. Koenig); and Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire des Eucaryotes, Strasbourg, France (M.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.3.589"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(86)80159-0"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1986.00360150081010"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(87)90369-X"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000174394"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.eurheartj.a060072"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(97)89194-1"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/334248a0"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5254.1423"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199610173351601"},{"key":"e_1_3_2_11_2","first-page":"554","volume":"59","year":"1996","unstructured":"Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. 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Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. TINS. 1996;19:465-468.","journal-title":"TINS"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.59.4.486"}],"container-title":["Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/01.CIR.95.9.2247","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T12:34:00Z","timestamp":1715517240000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/01.CIR.95.9.2247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,5,6]]},"references-count":20,"journal-issue":{"issue":"9","published-print":{"date-parts":[[1997,5,6]]}},"alternative-id":["10.1161\/01.CIR.95.9.2247"],"URL":"https:\/\/doi.org\/10.1161\/01.cir.95.9.2247","relation":{},"ISSN":["0009-7322","1524-4539"],"issn-type":[{"value":"0009-7322","type":"print"},{"value":"1524-4539","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,5,6]]},"assertion":[{"value":"1996-12-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"1997-03-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"1997-05-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}