Prominent extra-neurological disease has been observed following the disruption of several proteins implicated in the maintenance of cristae structure, for example, hypertrophic cardiomyopathy occurs in patients harbouring mutated forms of ATAD3A and TAZ (Barth syndrome) [253,254], and 3-MGA in ATAD3A, TAZ, MICOS13 and ATP5F1E [243,253,255,256]. Here, ATAD3A is linked to Barth syndrome.