Coenzyme Q10 deficiency explained
Synonyms: | Leigh syndrome with nephrotic syndrome |
Coenzyme Q10 deficiency |
Coenzyme Q10 deficiency is a deficiency of coenzyme Q10.
It can be associated with COQ2, APTX, PDSS2, PDSS1, CABC1, and COQ9.Some forms may be more treatable than other mitochondrial diseases.[1]
External links
Notes and References
- Duncan AJ, Bitner-Glindzicz M, Meunier B . A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease . Am. J. Hum. Genet. . 84 . 5 . 558–66 . May 2009 . 19375058 . 2681001 . 10.1016/j.ajhg.2009.03.018 . etal.