| 1 | COXPD31, HTRA2, MGCA8, MIPEP, NPHPL1, PITRM1, SCAMRP, XPNPEP3
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| Disease-Associated Genetic Variation in Human Mitochondrial Protein Import.
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| Nicolas E, Tricarico R, Savage M, Golemis EA, Hall MJ.
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| Am J Hum Genet 104(5):784-801. doi: 10.1016/j.ajhg.2019.03.019. Review.
2019
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| 2 | HTRA2, MGCA8
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| Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
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| Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW.
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| J Inherit Metab Dis 40(1):121-130. doi: 10.1007/s10545-016-9977-2. Epub 2016 Sep 30.
2017
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| 3 | HTRA2, MGCA8
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| Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
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| Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O.
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| J Med Genet 53(10):690-6. doi: 10.1136/jmedgenet-2016-103922. Epub 2016 May 12.
2016
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