| 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 | BEHRS2, C12orf65
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| Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
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| Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R.
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| J Neuromuscul Dis 1(1):55-63. doi: 10.3233/JND-140003.
2014
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| 6 | 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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| 7 | C12orf65, SPG55
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| A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
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| Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I; Japan Spastic Paraplegia Research Consortium (JASPAC).
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| J Med Genet 49(12):777-84. doi: 10.1136/jmedgenet-2012-101212.
2012
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| 8 | C12orf65, ICT1, MTRF1, MTRF1L, SNE2
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| Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
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| Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA.
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| Am J Hum Genet 87(1):115-22.PMID: 20598281 2010
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