For example, dominantly inherited mutations in SLC25A4 encoding the ADP/ATP carrier AAC1 (ANT1) cause adult-onset autosomal dominant progressive external ophthalmoplegia, associated with multiple mtDNA deletions, whereas recessive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy (40); a recent report has also identified de novo dominant SLC25A4 variants, affecting key residues, causing mtDNA depletion. Here, PRPF6 is linked to Mitochondrial myopathy.