{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:48:39Z","timestamp":1791470919940,"version":"4.3.4"},"reference-count":48,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"23","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2022,12,6]]},"abstract":"<jats:sec sec-type=\"background\" xml:lang=\"en\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      Integrin \u03b17\u03b21 is a major laminin receptor in skeletal and cardiac muscle. In skeletal muscle, integrin \u03b17\u03b21 plays an important role during muscle development and has been described as an important modifier of skeletal muscle diseases. The integrin \u03b17\u03b21 is also highly expressed in the heart, but its precise role in cardiac function is unknown. Mutations in the integrin \u03b17 gene (\n                      <jats:italic>ITGA7<\/jats:italic>\n                      ) have been reported in children with congenital myopathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Methods and Results<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      In this study, we described skeletal and cardiac muscle pathology in\n                      <jats:italic>Itga7<\/jats:italic>\n                      <jats:sup>\n                        <jats:italic>\u2212\/\u2212<\/jats:italic>\n                      <\/jats:sup>\n                      mice and 5 patients from 2 unrelated families with\n                      <jats:italic>ITGA7<\/jats:italic>\n                      mutations. Proband in family 1 presented a homozygous c.806_818del [p.S269fs] variant, and proband in family 2 was identified with 2 intron variants in the\n                      <jats:italic>ITGA7<\/jats:italic>\n                      gene. The complete absence of the integrin \u03b17 protein in muscle supports the\n                      <jats:italic>ITGA7<\/jats:italic>\n                      mutations are pathogenic. We performed electrocardiography, echocardiography, or cardiac magnetic resonance imaging, and histological biopsy analyses in patients with\n                      <jats:italic>ITGA7<\/jats:italic>\n                      deficiency and\n                      <jats:italic>Itga7<\/jats:italic>\n                      <jats:sup>\n                        <jats:italic>\u2212\/\u2212<\/jats:italic>\n                      <\/jats:sup>\n                      mice. The patients exhibited cardiac dysrhythmia and dysfunction from the third decade of life and late\u2010onset respiratory insufficiency, but with relatively mild limb muscle involvement. Mice demonstrated corresponding abnormalities in cardiac conduction and contraction as well as diaphragm muscle fibrosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      Our data suggest that loss of integrin \u03b17 causes a novel form of adult\u2010onset cardiac dysfunction indicating a critical role for the integrin \u03b17\u03b21 in normal cardiac function and highlights the need for long\u2010term cardiac monitoring in patients with\n                      <jats:italic>ITGA7<\/jats:italic>\n                      \u2010related congenital myopathy.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/jaha.122.026494","type":"journal-article","created":{"date-parts":[[2022,11,29]],"date-time":"2022-11-29T06:13:02Z","timestamp":1669702382000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":22,"title":["Integrin \u03b17 Mutations Are Associated With Adult\u2010Onset Cardiac Dysfunction in Humans and Mice"],"prefix":"10.1161","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9709-6699","authenticated-orcid":false,"given":"Enrico","family":"Bugiardini","sequence":"first","affiliation":[{"name":"Queen Square Centre for Neuromuscular Diseases Queen Square Institute of Neurology, UCL and National Hospital for Neurology and Neurosurgery London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9996-013X","authenticated-orcid":false,"given":"Andreia M.","family":"Nunes","sequence":"additional","affiliation":[{"name":"Department of 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