| 1 | C12orf65, COFD7
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| Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction.
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| Nishihara H, Omoto M, Takao M, Higuchi Y, Koga M, Kawai M, Kawano H, Ikeda E, Takashima H, Kanda T.
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| Neurol Genet 3(4):e171. doi: 10.1212/NXG.0000000000000171. eCollection 2017 Aug.
2017
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| 2 | C12orf65, COFD7
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| Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
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| Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.
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| J Neurol Neurosurg Psychiatry 87(2):212-6. doi: 10.1136/jnnp-2014-310084. Epub 2015 May 20.
2016
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| 3 | C12orf65, COFD7
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| Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
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| Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JA, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM.
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| J Neuromuscul Dis 2(4):409-419.
2015
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| 4 | C12orf65, COFD7
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| Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
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| Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V.
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| Eur J Hum Genet 22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15.
2014
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| 5 | C12orf65, COFD7
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| Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
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| Buchert R, Uebe S, Radwan F, Tawamie H, Issa S, Shimazaki H, Henneke M, Ekici AB, Reis A, Abou Jamra R.
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| Eur J Med Genet 56(11):599-602. doi: 10.1016/j.ejmg.2013.09.010. Epub 2013 Sep 28.
2013
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