| 1 | ACO2, ICRD, OPA9
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| Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
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| Gibson S, Azamian MS, Lalani SR, Yen KG, Sutton VR, Scott DA.
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| Am J Med Genet A. Aug;182(8):1960-1966. doi: 10.1002/ajmg.a.61634. Epub 2020 May 25. 2020
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| 2 | ACO2, ICRD
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| Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
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| Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC.
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| Ann Clin Transl Neurol. Jun;7(6):1013-1028. doi: 10.1002/acn3.51074. Epub 2020 Jun 9 2020
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| 3 | ACO2, ICRD
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| ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
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| Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA.
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| Neurol Genet. Mar 21;4(2):e223. doi: 10.1212/NXG.0000000000000223. 2018
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| 4 | ACO2, ICRD
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| Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2.
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| Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O.
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| Am J Hum Genet 90(3):518-523.
2012
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