PMID 24215330 2013 Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
rs121913659 in
NDUFV1 gene and
MITOCHONDRIAL COMPLEX I DEFICIENCY
PMID 26345448 2015 Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
PMID 10080174 1999 Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
PMID 23562761 2013 A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.