Condition: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
rs757043077
in
NDUFAF5
gene and
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
PMID 18940309
2008 Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
PMID 19542079
2010 Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
PMID 21607760
2012 Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.