Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

René Feichtinger* (First author), Michaela Brunner-Krainz, Bader Alhaddad, Saskia Wortmann (Co-author), Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker (Co-author), Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl (Co-author), Tobias B Haack, Johannes A. Mayr (Last author)

*Corresponding author for this work

Research output: Contribution to journalOriginal Articlepeer-review

32 Citations (Web of Science)
Original languageEnglish
Pages (from-to)7202589
JournalOxidative Medicine and Cellular Longevity
Volume2017
DOIs
Publication statusPublished - 2017

Keywords

  • CYTOCHROME-C-OXIDASE
  • LACTIC-ACIDOSIS
  • HOMOZYGOUS MUTATION
  • ENZYME DEFICIENCY
  • MITOCHONDRIAL-DNA
  • RENAL ONCOCYTOMA
  • UQCRC2 MUTATION
  • PHOSPHORYLATION
  • HYPOGLYCEMIA
  • DISEASE

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