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Tang, P. FBXL4-Related Early Onset Mitochondrial Encephalopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/6043 (accessed on 25 September 2026).
Tang P. FBXL4-Related Early Onset Mitochondrial Encephalopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/6043. Accessed September 25, 2026.
Tang, Peter. "FBXL4-Related Early Onset Mitochondrial Encephalopathy" Encyclopedia, https://encyclopedia.pub/entry/6043 (accessed September 25, 2026).
Tang, P. (2021, January 04). FBXL4-Related Early Onset Mitochondrial Encephalopathy. In Encyclopedia. https://encyclopedia.pub/entry/6043
Tang, Peter. "FBXL4-Related Early Onset Mitochondrial Encephalopathy." Encyclopedia. Web. 04 January, 2021.
FBXL4-Related Early Onset Mitochondrial Encephalopathy
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome

FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins in infancy and affects multiple body systems. It is primarily associated with brain dysfunction combined with muscle weakness (encephalomyopathy).

genetic conditions

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. Antoun G, McBride S, Vanstone JR, Naas T, Michaud J, Redpath S, McMillan HJ,Brophy J, Daoud H, Chakraborty P, Dyment D, Holcik M, Harper ME, Lines MA.Detailed Biochemical and Bioenergetic Characterization of FBXL4-RelatedEncephalomyopathic Mitochondrial DNA Depletion. JIMD Rep. 2016;27:1-9. doi:10.1007/8904_2015_491.
  3. 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.
  4. 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.
  5. 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.
  6. Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C,Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J,Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S,Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W,Prokisch H, McFarland R. Clinical, morphological, biochemical, imaging andoutcome parameters in 21 individuals with mitochondrial maintenance defectrelated to FBXL4 mutations. J Inherit Metab Dis. 2015 Sep;38(5):905-14. doi:10.1007/s10545-015-9836-6.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang
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Update Date: 04 Jan 2021
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