Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
R. Spiegel,O. Pines,10 Authors,O. Elpeleg
2012 · DOI: 10.1016/j.ajhg.2012.01.009
American Journal of Human Genetics · 108 Citations
TLDR
A defect in mitochondrial aconitase is associated with an infantile neurodegenerative disorder affecting mainly the cerebellum and retina, and determination of the ACO2 sequence or of ac onitase activity in lymphoblasts are warranted in similarly affected individuals, based on clinical and neuroradiologic grounds.