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Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH. Cameron JM, et al. Among authors: levandovskiy v. Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi: 10.1016/j.ajhg.2011.08.011. Epub 2011 Sep 22. Am J Hum Genet. 2011. PMID: 21944046 Free PMC article.
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH. Cameron JM, et al. Among authors: levandovskiy v. Mitochondrion. 2011 Jan;11(1):191-9. doi: 10.1016/j.mito.2010.09.008. Epub 2010 Oct 30. Mitochondrion. 2011. PMID: 20920610
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