| 1 | CEML, SCO2
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| Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.
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| Gurgel-Giannetti J, Oliveira G, Brasileiro Filho G, Martins P, Vainzof M, Hirano M.
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| JAMA Neurol 70(2):258-61. doi: 10.1001/jamaneurol.2013.595. Review.
2013
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| 2 | CEML, SCO2
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| Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.
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| Sambuughin N, Liu X, Bijarnia S, Wallace T, Verma IC, Hamilton S, Muldoon S, Tallon LJ, Wang S.
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| J Hum Genet 58(4):226-8. doi: 10.1038/jhg.2012.156. Epub 2013 Jan 31.
2013
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| 3 | CEML, SCO2
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| A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.
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| Pronicki M, Kowalski P, Piekutowska-Abramczuk D, Taybert J, Karkucinska-Wieckowska A, Szymanska-Debinska T, Karczmarewicz E, Pajdowska M, Migdal M, Milewska-Bobula B, Sykut-Cegielska J, Popowska E.
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| Eur J Paediatr Neurol 14(3):253-60. doi: 10.1016/j.ejpn.2009.09.008. Epub 2009 Oct 29.
2010
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| 4 | CEML, SCO2
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| Phenotypic consequences of a novel SCO2 gene mutation.
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| Verdijk RM, de Krijger R, Schoonderwoerd K, Tiranti V, Smeets H, Govaerts LC, de Coo R.
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| Am J Med Genet A 146A(21):2822-7.
2008
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| 5 | SCO2, CEML
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| Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
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| Tarnopolsky MA, Bourgeois JM, Fu MH, Kataeva G, Shah J, Simon DK, Mahoney D, Johns D, MacKay N, Robinson BH.
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| Am J Med Genet 125A(3):310-4. 2004
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| 6 | SCO2, CEML
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| Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
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| Tay SK, Shanske S, Kaplan P, DiMauro S.
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| Arch Neurol 61(6):950-2. 2004
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| 7 | SCO2, CEML
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| Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
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| Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S.
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| Arch Neurol 59(5):862-5. Erratum in: Arch Neurol. 2003 May;60(5):749. 2002
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| 8 | CEML, SCO2
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| Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
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| Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA.
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| Hum Mol Genet 9(5):795-801. 2000
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| 9 | CEML, SCO2
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| Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
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| Papadopoulou LC, et al.
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| Nat Genet 23(3):333-7 1999
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