| 1 | LRPPRC, LSFC
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| LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
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| Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW
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| Brain. Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27. 2015
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| 2 | LRPPRC, LSFC
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| Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.
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| Sasarman F, Nishimura T, Antonicka H, Weraarpachai W, Shoubridge EA; LSFC Consortium.
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| Hum Mol Genet Jan 15;24(2):480-91. doi: 10.1093/hmg/ddu468. Epub 2014 Sep 11 2015
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| 3 | LRPPRC, LSFC
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| LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
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| Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA.
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| J Med Genet 48(3):183-9. Epub 2011 Jan 25.
2011
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| 4 | LRPPRC, LSFC
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| Mitochondrial and nuclear genomic responses to loss of LRPPRC expression.
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| Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE, Mootha VK.
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| J Biol Chem 285(18):13742-7. Epub 2010 Mar 10.
2010
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| 5 | LRPPRC, LSFC
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| Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
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| Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES.
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| Proc Natl Acad Sci U S A 100(2):605-10. 2003
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| 6 | COX7A2L,LSFC
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| A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.
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| Lee N, Daly MJ, Delmonte T, Lander ES, Xu F, Hudson TJ, Mitchell GA, Morin CC, Robinson BH, Rioux JD.
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| Am J Hum Genet 68(2):397-409. 2001
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| 7 | LSFC
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| Saguenay Lac Saint Jean cytochrome oxidase deficiency : sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc.
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| Lee N, et al.
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| Biochim Biophys Acta 1406 : 1-4. 1998
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