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Primary and secondary CoQ(10) deficiencies in humans.
Quinzii CM, Hirano M. Quinzii CM, et al. Biofactors. 2011 Sep-Oct;37(5):361-5. doi: 10.1002/biof.155. Epub 2011 Oct 11. Biofactors. 2011. PMID: 21990098 Free PMC article. Review.
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. Balreira A, et al. J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3. J Neurol. 2014. PMID: 25182700 Free PMC article.