Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Florence Habarou, Yamina Hamel, Tobias B Haack, René Feichtinger (Co-author), Elise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole-Feysot, Patrick Nitschke, Nicolas Goudin, Nathalie BoddaertIvan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J Rodenburg, G Christoph Korenke, Thomas Meitinger, Tim M Strom, Holger Prokisch, Agnes Rotig, Chris Ottolenghi, Johannes A. Mayr* (Last author), Pascale de Lonlay

*Corresponding author for this work

Research output: Contribution to journalOriginal Articlepeer-review

52 Citations (Web of Science)
Original languageEnglish
Pages (from-to)283-290
JournalAMERICAN JOURNAL OF HUMAN GENETICS
Volume101
Issue number2
DOIs
Publication statusPublished - 2017

Keywords

  • HUMAN LIPOYLTRANSFERASE GENE
  • MULTIPLE RESPIRATORY-CHAIN
  • LIPOIC ACID BIOSYNTHESIS
  • SACCHAROMYCES-CEREVISIAE
  • CLUSTER BIOGENESIS
  • HUMAN-DISEASE
  • DEFICIENCY
  • DEHYDROGENASE
  • NFU1
  • METABOLISM

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