Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

  • Martina Huemer
  • , Daniela Karall
  • , Anna Schossig
  • , Jose E. Abdenur
  • , Fatma Al Jasmi
  • , Caroline Biagosch
  • , Felix Distelmaier
  • , Peter Freisinger
  • , Brett H. Graham
  • , Tobias B. Haack
  • , Natalie Hauser
  • , Jozef Hertecant
  • , Darius Ebrahimi-Fakhari
  • , Vassiliki Konstantopoulou
  • , Karen Leydiker
  • , Charles M. Lourenco
  • , Sabine Scholl-Bürgi
  • , Ekkehard Wilichowski
  • , Nicole I. Wolf
  • , Saskia B. Wortmann
  • Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

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