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Page 1
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Kemp JP, et al. Brain. 2011 Jan;134(Pt 1):183-95. doi: 10.1093/brain/awq320. Epub 2010 Dec 17. Brain. 2011. PMID: 21169334 Free PMC article.
MELAS associated with mutations in the POLG1 gene.
Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW. Deschauer M, et al. Neurology. 2007 May 15;68(20):1741-2. doi: 10.1212/01.wnl.0000261929.92478.3e. Neurology. 2007. PMID: 17502560 No abstract available.
34 results