| 1 | ADCK3, UDCA
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| Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
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| Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor RW, Chinnery PF.
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| J Neurol Neurosurg Psychiatry 83(2):174-8. doi: 10.1136/jnnp-2011-301258. Epub 2011 Oct 29.
2012
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| 2 | ADCK3, UDCA
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| Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.
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| Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H.
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| Mitochondrion 10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23.
2010
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| 3 | ADCK3, UDCA
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| CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
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| Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rtig A.
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| Am J Hum Genet 82(3):623-30. 2008
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| 4 | ADCK3, COQ10D1, COQ10D2, COQ10D3, COQ2, PDSS1, PDSS2, UDCA
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| Human CoQ10 deficiencies.
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| Quinzii CM, López LC, Naini A, DiMauro S, Hirano M.
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| Biofactors 32(1-4):113-8.PMID: 19096106 2008
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