Barth syndrome-related cardiomyopathy is associated with a reduction in myocardial glucose oxidation

Heart failure presents as the leading cause of infant mortality in individuals with Barth syndrome (BTHS), a rare genetic disorder due to mutations in the tafazzin ( ) gene affecting mitochondrial structure and function. Investigations into the perturbed bioenergetics in the BTHS heart remain limite...

Ausführliche Beschreibung