{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T10:15:34Z","timestamp":1779963334427,"version":"3.53.1"},"reference-count":37,"publisher":"Charles University in Prague, Karolinum Press","issue":"3","license":[{"start":{"date-parts":[[2014,11,22]],"date-time":"2014-11-22T00:00:00Z","timestamp":1416614400000},"content-version":"vor","delay-in-days":690,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2014,11,22]],"date-time":"2014-11-22T00:00:00Z","timestamp":1416614400000},"content-version":"tdm","delay-in-days":690,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prague Med. Rep."],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>\n                    Barth syndrome is an X-linked recessive disorder that is caused by mutations in\u202f\u2009Taffazin gene (\n                    <jats:italic>TAZ<\/jats:italic>\n                    ), leading to severe cardiolipin deficiency which results in\u202frespiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia, skeletal myopathy, growth deficiency and 3-methylglutaconic aciduria. In \u202fthis paper, we present clinical, biochemical and molecular data of the first four Czech patients from four unrelated families diagnosed with this rare disease. The mean age of onset was 5.5 \u00b1 3.8 months. One child suffered from sudden cardiac death at the age of 2 years, the age of living patients is between 3 and 13 years. Muscle hypotonia was present in\u202f all four patients; cardiomyopathy and growth retardation in\u202f three and neutropenia in\u202f two of them. Two patients manifested a\u202fdilated and one patient a\u202fhypertrophic cardiomyopathy. A characteristic laboratory abnormality was the intermittently increased excretion of 3-methylglutaconic acid. Three novel hemizygous mutations in \u202fthe\n                    <jats:italic>TAZ<\/jats:italic>\n                    gene were found (c.584G&gt;T; c.109+6T&gt;C; c.86G&gt;A). We conclude that Barth syndrome should be included in\u202fdifferential diagnosis of cardiomyopathy in \u202fchildhood, especially in\u202f the co-occurrence of dilated cardiomyopathy and 3-methylglutaconic aciduria.\n                  <\/jats:p>","DOI":"10.14712\/23362936.2014.16","type":"journal-article","created":{"date-parts":[[2014,11,28]],"date-time":"2014-11-28T09:52:08Z","timestamp":1417168328000},"page":"139-153","source":"Crossref","is-referenced-by-count":14,"title":["Novel Mutations in the TAZ Gene in Patients with Barth Syndrome"],"prefix":"10.14712","volume":"114","author":[{"given":"S.","family":"Mazurov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Tesa\u0159ov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Magner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hou\u0161\u0165kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hans\u00edkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"August\u00ednov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Tomek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Vondr\u00e1\u010dkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Zeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom\u00e1\u0161","family":"Honz\u00edk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2014,11,22]]},"reference":[{"key":"23362936.2014.16_1","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1136\/adc.73.5.447","volume":"73","author":"Adwani","year":"1995","journal-title":"Arch. 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