While cardiac manifestations of BTHS are well characterized in male patients, the mechanisms underlying skeletal muscle weakness and fatigability are poorly understood.<h4>Methods</h4>We investigated neuromuscular and mitochondrial alterations in a novel murine model (Taz<sup>PM</sup>) carrying a patient-derived D75H point mutation knocked into the Tafazzin locus. This evidence concerns the gene TAFAZZIN and Barth syndrome.