In humans, for example, a mutation in PNPT1 has also been linked with impaired import of RNA into the mitochondria, and leads to combined oxidative phosphorylation deficiency53 and also autosomal recessive deafness51; missense mutations in LONP1 have been implicated in CODAS syndrome, which is a developmental disorder affecting multiple systems (cerebral, ocular, dental, auricular and skeletal)54 and mutations in SLC25A26 have been linked to combined oxidative phosphorylation deficiency55. This evidence concerns the gene SLC25A26 and CODAS syndrome.