{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T22:53:03Z","timestamp":1784328783588,"version":"3.55.0"},"reference-count":45,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,1,30]],"date-time":"2013-01-30T00:00:00Z","timestamp":1359504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Barth syndrome (BTHS) is an X\u2010linked mitochondrial defect characterised by dilated cardiomyopathy, neutropaenia and 3\u2010methylglutaconic aciduria (3\u2010MGCA). We report on two affected brothers with c.646G\u2009&gt;\u2009A (p.G216R) <jats:italic>TAZ<\/jats:italic> gene mutations. The pathogenicity of the mutation, as indicated by the structure\u2010based functional analyses, was further confirmed by abnormal monolysocardiolipin\/cardiolipin ratio in dry blood spots of the patients as well as the occurrence of this mutation in another reported BTHS proband. In both brothers, 2D\u2010echocardiography revealed some features of left ventricular noncompaction (LVNC) despite marked differences in the course of the disease; the eldest child presented with isolated cardiomyopathy from late infancy, whereas the youngest showed severe lactic acidosis without 3\u2010MGCA during the neonatal period. An examination of the patients\u2019 fibroblast cultures revealed that extremely low mitochondrial membrane potentials (mt\u0394\u03a8 about 50 % of the control value) dominated other unspecific mitochondrial changes detected (respiratory chain dysfunction, abnormal ROS production and depressed antioxidant defense). 1) Our studies confirm generalised mitochondrial dysfunction in the skeletal muscle and the fibroblasts of BTHS patients, especially a severe impairment in the mt\u0394\u03a8 and the inhibition of complex V activity. It can be hypothesised that impaired mt\u0394\u03a8 and mitochondrial ATP synthase activity may contribute to episodes of cardiac arrhythmia that occurred unexpectedly in BTHS patients. 2) Severe lactic acidosis without 3\u2010methylglutaconic aciduria in male neonates as well as an asymptomatic mild left ventricular noncompaction may characterise the ranges of natural history of Barth syndrome.<\/jats:p>","DOI":"10.1007\/s10545-013-9584-4","type":"journal-article","created":{"date-parts":[[2013,1,29]],"date-time":"2013-01-29T12:04:43Z","timestamp":1359461083000},"page":"929-937","source":"Crossref","is-referenced-by-count":24,"title":["Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome"],"prefix":"10.1002","volume":"36","author":[{"given":"Agnieszka","family":"Karkucinska\u2010Wieckowska","sequence":"first","affiliation":[{"name":"Department of Pathology The Children's Memorial Health Institute Warsaw 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