TWNK and mitochondrial DNA depletion syndrome 7 (hepatocerebral type): A specific recessive mutation in C10ORF2 (encoding TWINKLE) is associated with infantile spinocerebellar ataxia (IOSCA) [63], a neurological syndrome belonging to the Finnish disease; heritage and recessive C10ORF2 mutations may occasionally cause AHS as well [64,65].