Since the initial discovery of the association between C19orf12 gene and MPAN, isoform one has been considered the canonical form [28]; this interpretation was supported by the identification of a common variant (c.-2C>T) in MPAN patients, affecting the coding sequence of isoform one (eleventh codon) and the 5′ untranslated region of the other isoforms. Here, C19orf12 is linked to neurodegeneration with brain iron accumulation 4.