Mutations in the C10orf2 gene have been shown to play a role in multiple autosomal recessive diseases including infantile-onset spinocerebellar ataxia (IOSCA), hepatocerebral syndrome, and autosomal dominant PEO (adPEO) [5]. The gene discussed is TWNK; the disease is mitochondrial DNA depletion syndrome 7 (hepatocerebral type).