Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Titel:
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Auteur:
Habarou, Florence Hamel, Yamina Haack, Tobias B. Feichtinger, René G. Lebigot, Elise Marquardt, Iris Busiah, Kanetee Laroche, Cécile Madrange, Marine Grisel, Coraline Pontoizeau, Clément Eisermann, Monika Boutron, Audrey Chrétien, Dominique Chadefaux-Vekemans, Bernadette Barouki, Robert Bole-Feysot, Christine Nitschke, Patrick Goudin, Nicolas Boddaert, Nathalie Nemazanyy, Ivan Delahodde, Agnès Kölker, Stefan Rodenburg, Richard J. Korenke, G. Christoph Meitinger, Thomas Strom, Tim M. Prokisch, Holger Rotig, Agnes Ottolenghi, Chris Mayr, Johannes A. de Lonlay, Pascale