FBXL4

Publications

El-Hattab A W et al. Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat. 2017;38(12):1649-1659.  PMID: 28940506.

Antoun G et al. Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion. JIMD Rep. 2016;27:1-9.  PMID: 26404457.

Bonnen P E et al. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013;93(3):471-81.  PMID: 23993193.

Dai H et al. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017;91(4):634-639.  PMID: 27743463.

Gai X et al. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013;93(3):482-95.  PMID: 23993194.

Huemer M et al. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015;38(5):905-14.  PMID: 25868664.

Morton S U et al. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. JIMD Rep. 2017;35:7-15.  PMID: 27858371.

Pronicka E et al. New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre. J Transl Med. 2016;14(1):174.  PMID: 27290639.

Van Rij M C et al. Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. Clin Case Rep. 2016;4(4):425-428.  PMID: 27099744.