Knockout mouse studies have also shown that loss of AAC1 produces a similar myopathy and cardiomyopathy phenotype to individuals with recessive SLC25A4 mutations.61, 62 We therefore postulate that the complete lack of functional AAC1 triggers a compensatory mechanism to upregulate expression of other isoforms of ADP/ATP carrier in cases of recessive disease. Here, SLC25A4 is linked to myopathy.