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References

1. Almannai M, Dai H, El-Hattab AW, Wong LJC. FBXL4-Related EncephalomyopathicMitochondrial DNA Depletion Syndrome. 2017 Apr 6. In: Adam MP, Ardinger HH, PagonRA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK425540/
2. Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, WongLJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4cause mitochondrial encephalopathy and a disorder of mitochondrial DNAmaintenance. Am J Hum Genet. 2013 Sep 5;93(3):471-81. doi:10.1016/j.ajhg.2013.07.017.Oct 3;93(4):773.
3. Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A,McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. FBXL4 defectsare common in patients with congenital lactic acidemia and encephalomyopathicmitochondrial DNA depletion syndrome. Clin Genet. 2017 Apr;91(4):634-639. doi:10.1111/cge.12894.
4. Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A,Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM,Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ,Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, LampertiC, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P,Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Mutations in FBXL4,encoding a mitochondrial protein, cause early-onset mitochondrialencephalomyopathy. Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi:10.1016/j.ajhg.2013.07.016.