| 1 | MTDPS12, SLC25A4
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| Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
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| Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Őunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW.
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| Am J Hum Genet 99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014.
2016
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| 2 | MTDPS12, SLC25A4
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| Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.
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| Körver-Keularts IM, de Visser M, Bakker HD, Wanders RJ, Vansenne F, Scholte HR, Dorland L, Nicolaes GA, Spaapen LM, Smeets HJ, Hendrickx AT, van den Bosch BJ.
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| JIMD Rep IMD Rep. 2015 Mar 3. [Epub ahead of print]
2015
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| 3 | MTDPS12, SLC25A4
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| Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
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| Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-González XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC.
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| Proc Natl Acad Sci U S A 110(9):3453-8. doi: 10.1073/pnas.1300690110. Epub 2013 Feb 11.
2013
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| 4 | CACM2, MTDPS12, SLC25A4
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| Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.
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| Echaniz-Laguna A, Chassagne M, Ceresuela J, Rouvet I, Padet S, Acquaviva C, Nataf S, Vinzio S, Bozon D, Mousson de Camaret B.
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| J Med Genet 49(2):146-50. Epub 2011 Dec 20. 2012
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| 5 | MTDPS12, SLC25A4
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| Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
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| Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M.
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| Hum Mol Genet 14(20):3079-88. Epub 2005 Sep 9.
2005
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