{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:39:18Z","timestamp":1791067158295,"version":"4.1.0"},"reference-count":38,"publisher":"Cambridge University Press (CUP)","issue":"9","license":[{"start":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T00:00:00Z","timestamp":1637020800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S1047951121004455_sa1\"><jats:title>Background:<\/jats:title><jats:p>Salih myopathy, characterised by both congenital myopathy and fatal dilated cardiomyopathy, is an inherited muscle disorder that affects skeletal and cardiac muscles. <jats:italic>TTN<\/jats:italic> has been identified as the main cause of this myopathy, the enormous size of this gene poses a formidable challenge to molecular genetic diagnostics.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951121004455_sa2\"><jats:title>Method:<\/jats:title><jats:p>In the present study, whole-exome sequencing, cardiac MRI, and metabolic parameter assessment were performed to investigate the genetic causes of Salih myopathy in a consanguineous Iranian family who presented with titinopathy involving both skeletal and heart muscles in an autosomal recessive inheritance pattern.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951121004455_sa3\"><jats:title>Results:<\/jats:title><jats:p>Two missense variants of <jats:italic>TTN<\/jats:italic> gene (NM_001267550.2), namely c.61280A&gt;C (p. Gln20427Pro) and c.54970G&gt;A (p. Gly18324Ser), were detected and segregations were confirmed by polymerase chain reaction-based Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951121004455_sa4\"><jats:title>Conclusions:<\/jats:title><jats:p>The compound heterozygous variants, c.61280A&gt;C, (p. Gln20427Pro) and c.54970G&gt;A, (p. Gly18324Ser) in the <jats:italic>TTN<\/jats:italic> gene appear to be the cause of Salih myopathy and dilated cardiomyopathy in the family presented. Whole-exome sequencing is an effective molecular diagnostic tool to identify the causative genetic variants of large genes such as <jats:italic>TTN<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s1047951121004455","type":"journal-article","created":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T04:02:39Z","timestamp":1637035359000},"page":"1462-1467","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":9,"title":["Whole-exome sequencing identified compound heterozygous variants in the <i>TTN<\/i> gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family"],"prefix":"10.1017","volume":"32","author":[{"given":"Mohammad","family":"Mahdavi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Mohsen-Pour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Maleki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahshid","family":"Hesami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niloofar","family":"Naderi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Golnaz","family":"Houshmand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid R.","family":"Rasouli Jazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Shahzadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3499-044X","authenticated-orcid":false,"given":"Samira","family":"Kalayinia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2021,11,16]]},"reference":[{"key":"S1047951121004455_ref32","doi-asserted-by":"publisher","DOI":"10.1007\/s10741-015-9495-6"},{"key":"S1047951121004455_ref35","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1110186"},{"key":"S1047951121004455_ref26","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku411"},{"key":"S1047951121004455_ref34","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2012.01.392"},{"key":"S1047951121004455_ref16","doi-asserted-by":"publisher","DOI":"10.3233\/JND-160158"},{"key":"S1047951121004455_ref1","unstructured":"1. 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