This discovery emphasizes the distinctions between disease-associated variants of CHCHD10. Notably, the p.Gly58Arg variant is associated with isolated mitochondrial myopathy, and some affected patients also exhibit elevated lactate levels (6, 39, 40) and mitochondrial myopathy has also been demonstrated in patients with the Ser59Leu variant (8). Here, CHCHD10 is linked to Mitochondrial myopathy.