This concerned, for example, mutations in CLPB [25, 60], PARS2 [26], FBXL4 [61, 62] and recently added TMEM126B (data published on ESHG 2016 by Alston et al.), and NAXE [28] In one of the patients with the MD phenotype we identified potentially pathogenic variants in candidate NDUFB8 which role in human pathology is under verification [Piekutowska-Abramczuk et al. submitted to SSIEM 2016]. Here, FBXL4 is linked to Menkes disease.