{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:52:40Z","timestamp":1756385560977},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,12,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (<jats:italic>TAZ<\/jats:italic>) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G&gt;C splice site mutation in intron 3 of the <jats:italic>TAZ<\/jats:italic> gene that was detected prenatally.<\/jats:p>","DOI":"10.1515\/bjmg-2016-0043","type":"journal-article","created":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T10:01:18Z","timestamp":1489053678000},"page":"95-100","source":"Crossref","is-referenced-by-count":4,"title":["A novel intronic splice site <i>tafazzin<\/i> gene mutation detected prenatally in a family with Barth syndrome"],"prefix":"10.1515","volume":"19","author":[{"given":"M","family":"Bak\u0161ien\u0117","sequence":"first","affiliation":[{"name":"Center for Medical Genetics , Vilnius University Hospital Santari\u0161ki\u0173 Klinikos , Vilnius , Lithuania"},{"name":"Department of Human and Medical Genetics , Vilnius University , Vilnius , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Benu\u0161ien\u0117","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics , Vilnius University Hospital Santari\u0161ki\u0173 Klinikos , Vilnius , Lithuania"},{"name":"Department of Human and Medical Genetics , Vilnius University , Vilnius , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Mork\u016bnien\u0117","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics , Vilnius University Hospital Santari\u0161ki\u0173 Klinikos , Vilnius , Lithuania"},{"name":"Department of Human and Medical Genetics , Vilnius University , Vilnius , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Ambrozaityt\u0117","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics , Vilnius University Hospital Santari\u0161ki\u0173 Klinikos , Vilnius , Lithuania"},{"name":"Department of Human and Medical Genetics , Vilnius University , Vilnius , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Utkus","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics , Vilnius University Hospital Santari\u0161ki\u0173 Klinikos , Vilnius , Lithuania"},{"name":"Department of Human and Medical Genetics , Vilnius University , Vilnius , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Ku\u010dinskas","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics , Vilnius University Hospital Santari\u0161ki\u0173 Klinikos , Vilnius , Lithuania"},{"name":"Department of Human and Medical Genetics , Vilnius University , Vilnius , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2016,12,31]]},"reference":[{"key":"2021040717215568962_j_bjmg-2016-0043_ref_001_w2aab3b8c44b1b7b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Barth PG, Scholte HR, Berden JM, van der Klei-Van Moorsel JM, Luyt Houwen IE, van\u2019t Veer Korthof ET, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. J Neurol Sci 1983; 62(1-3): 327-355.","DOI":"10.1016\/0022-510X(83)90209-5"},{"key":"2021040717215568962_j_bjmg-2016-0043_ref_002_w2aab3b8c44b1b7b1ab2b1b2Aa","unstructured":"Barth Syndrome Foundation Website: Frequently Asked Questions. 2006. http:\/\/www.barthsyndrome.org."},{"key":"2021040717215568962_j_bjmg-2016-0043_ref_003_w2aab3b8c44b1b7b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr. 1991; 119(5): 738-747.","DOI":"10.1016\/S0022-3476(05)80289-6"},{"key":"2021040717215568962_j_bjmg-2016-0043_ref_004_w2aab3b8c44b1b7b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Wortmann SB, Kluijtmans LA, Engelke UFH, Wevers RA, Morava E. The 3-methylglutaconic acidurias: What\u2019s new? 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