| 1 | GFM1, OXPHOSD1
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| Toward genotype phenotype correlations in GFM1 mutations.
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| Galmiche L, Serre V, Beinat M, Zossou R, Assouline Z, Lebre AS, Chretien F, Shenhav R, Zeharia A, Saada A, Vedrenne V, Boddaert N, de Lonlay P, Rio M, Munnich A, Rötig A.
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| Mitochondrion 12(2):242-7. doi: 10.1016/j.mito.2011.09.007. Epub 2011 Oct 1.
2012
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| 2 | GFM1, OXPHOSD1
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| Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.
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| Balasubramaniam S, Choy YS, Talib A, Norsiah MD, van den Heuvel LP, Rodenburg RJ.
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| JIMD Rep 5:113-22. doi: 10.1007/8904_2011_107. Epub 2011 Dec 21.
2012
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| 3 | GFM1, OXPHOSD1
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| Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
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| Smits P, Antonicka H, van Hasselt PM, Weraarpachai W, Haller W, Schreurs M, Venselaar H, Rodenburg RJ, Smeitink JA, van den Heuvel LP.
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| Eur J Hum Genet 19(3):275-9. doi: 10.1038/ejhg.2010.208. Epub 2010 Dec 1.
2011
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| 4 | GFM1, TUFM, OXPHOSD1, OXPHOSD2
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| Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu.
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| Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M.
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| Am J Hum Genet 80(1):44-58. Epub 2006 Nov 15. 2007
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| 5 | OXPHOSD1, GFM1
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| The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
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| Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA.
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| Hum Mol Genet 15(11):1835-46. Epub 2006 Apr 21. 2006
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| 6 | GFM1, OXPHOSD1, MRPS16, LACCA, TUFM, TSFM, COXPD2
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| Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs.
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| Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA.
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| Am J Hum Genet 79(5):869-77. Epub 2006 Sep 15. 2006
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| 7 | GFM1
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| Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
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| Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA.
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| N Engl J Med 351(20):2080-6. 2004
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| 8 | GFM1
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| Cloning and characterization of human and mouse mitochondrial elongation factor G, GFM and Gfm, and mapping of GFM to human chromosome 3q25.1-q26.2.
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| Gao J, Yu L, Zhang P, Jiang J, Chen J, Peng J, Wei Y, Zhao S.
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| Genomics 74(1):109-14. 2001
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| 9 | GFM1, GFM2
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| Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution.
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| Hammarsund M, Wilson W, Corcoran M, Merup M, Einhorn S, Grander D, Sangfelt O.
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| Hum Genet 109(5):542-50. 2001
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