Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Maartje C. van Rij, Fenna A. R. Jansen, Debby M. E. I. Hellebrekers, W. Onkenhout, Bert Smeets, Alexandra T. Hendrickx, Ralph W. H. Gottschalk, Sylke J. Steggerda, Cacha M. P. C. D. Peeters-Scholte, Monique C. Haak, Yvonne Hilhorst-Hofstee

Research output: Contribution to journalEditorialAcademicpeer-review

Original languageEnglish
Pages (from-to)425-428
JournalClinical Case Reports
Volume4
Issue number4
DOIs
Publication statusPublished - Apr 2016

Keywords

  • Cerebellar atrophy
  • encephalomyopathy
  • FBXL4 gene
  • lactate
  • mitochondrial encephalopathy
  • polyhydramnios
  • pyruvate

Cite this

van Rij, M. C., Jansen, F. A. R., Hellebrekers, D. M. E. I., Onkenhout, W., Smeets, B., Hendrickx, A. T., Gottschalk, R. W. H., Steggerda, S. J., Peeters-Scholte, C. M. P. C. D., Haak, M. C., & Hilhorst-Hofstee, Y. (2016). Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. Clinical Case Reports, 4(4), 425-428. https://doi.org/10.1002/ccr3.511