From The School of Biomedical Sciences Wiki
Succinate-CoA ligase is associated with the syndrome autosomal recessive mitochondrial DNA depletion syndrome-9. Patients with this syndrome can have a variable degree of phenotypes depending on which mutated gene.
- ↑ Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am. J. Hum. Genet. 81: 383-387, 2007