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

Florence Habarou, Yamina Hamel, Tobias B. Haack, René G. Feichtinger, 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, Pascale de Lonlay

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Biochemistry, Genetics and Molecular Biology