A form of mitochondrial disease that is caused by biallelic (autosomal recessive) mutations in nuclear‑encoded genes normally associated with mitochondrial Complex I subunits or assembly factors. It is characterized by sudden, painless central vision loss, optic nerve microangiopathy, and eventual atrophy in the absence of mtDNA mutations.
Comprehensive, easy-to-understand information about this condition
Checking for content...
No external resources available.
mitochondrial complex I deficiency, nuclear type 12
MONDO:0026720
mitochondrial complex I deficiency, nuclear type 30
MONDO:0026721
mitochondrial complex I deficiency, nuclear type 36
MONDO:0030902
mitochondrial complex I deficiency, nuclear type 37
MONDO:0030997
mitochondrial complex I deficiency, nuclear type 2
MONDO:0032606
mitochondrial complex I deficiency, nuclear type 3
MONDO:0032608