SLC25A4 and autosomal dominant progressive external ophthalmoplegia: Since then, a total of ten missense mutations have been identified in ANT1: five (A90D, L98P, D104G, A114P, and V289M) are dominant and were found in patients affected by adPEO, clinically characterized by ptosis and impairment of eye movements [47,237,238,239,240]; two (A123D and R236P) are recessive loss-of-function mutations and have been found in subjects affected by mitochondrial myopathy and cardiomyopathy [41,241]; three are de novo dominant mutations associated with severe non-adPEO disease (R80H and R235G) [49] or with a mild myopathy (K33Q) (King et al., 2018).