Interestingly, some of them were previously reported to be dysregulated in mitochondrial myopathy, including MYC, ATP2A2, ACTN3, AQP4, GLUL, TRIM63 and PFKFB3, which were partly consistent with transcriptome datasets from previous studies of mitochondrial genetic disorders21, 22, 23, 24. Here, ACTN3 is linked to Mitochondrial myopathy.