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Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin ( TAZ ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G&gt;C splice site mutation in intron 3 of the TAZ gene that was detected prenatally.

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome