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.