{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:06:47Z","timestamp":1790798807574,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4509,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Barth syndrome is an X\u2010linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to <jats:italic>DXS52<\/jats:italic> (z = 2.78, \u03b8 = 0.0). The family was non\u2010recombinant for <jats:italic>DXS52<\/jats:italic> in distal Xq28, but recombinant for <jats:italic>DXS374<\/jats:italic> which maps proximal to <jats:italic>DXS52<\/jats:italic>. This localised Barth syndrome distal to <jats:italic>DXS374<\/jats:italic>, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450309","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:22:10Z","timestamp":1118506930000},"page":"327-334","source":"Crossref","is-referenced-by-count":112,"title":["Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28"],"prefix":"10.1002","volume":"45","author":[{"given":"L. 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