LONP1 and CODAS syndrome: 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.