In the X-linked form, mutations in the gene G4.5 (TAZ), which encodes tafazzin, were initially identified by Bleyl and colleagues. This is the same gene previously identified by Bione and colleagues ...

It is caused by mutations in the TAZ gene, which affects how cells produce energy and maintain healthy heart and muscle function. Barth syndrome is estimated to affect 1 in 300,000 to 400,000 ...