Condition: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
rs121913659
in
NDUFV1
gene and
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
PMID 11349233
2001 Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
PMID 10080174
1999 Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.