NUBPL and leukodystrophy: For instance, mutations in NDUFV1, encoding the 51 kDa subunit, or NDUFS1, encoding the FMN-associated 70 kDa subunit of complex I, can cause leukodystrophy and myoclonic epilepsy [20], in addition to LD; whereas a mutation in NUBPL, encoding a protein that incorporates the Fe–S clusters into CI subunits, has been found in a single patient with leukodystrophy and elevated lactate in the CSF [144].