Micron Document




SCO2
part 14/19 · 33.5 KB total
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Further reading

• citerefjakschogilvieyaokortenhaus2000Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA (March 2000). "Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency". Human Molecular Genetics. 9 (5): 795–801. doi:10.1093/hmg/9.5.795. PMID 10749987.
• citerefjakschhorvathhornauer2001Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P (October 2001). "Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy". Neurology. 57 (8): 1440–6. doi:10.1212/wnl.57.8.1440. PMID 11673586. S2CID 24920023.
• citerefjakschparetstuckahorn2001Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H (December 2001). "Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts". Human Molecular Genetics. 10 (26): 3025–35. doi:10.1093/hmg/10.26.3025. PMID 11751685.
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