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

Habarou, Florence; Hamel, Yamina; Haack, Tobias B.; Feichtinger, Rene G.; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cecile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clement; Eisermann, Monika; Boutron, Audrey; Chretien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie; Nemazanyy, Ivan; Delahodde, Agnes; Kolker, Stefan; Rodenburg, Richard J.; Korenke, G. Christoph; Meitinger, Thomas; Strom, Tim M.; Prokisch, Holger; Rotig, Agnes; Ottolenghi, Chris; Mayr, Johannes A.; de Lonlay, Pascale

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

Autor(en):

Habarou, Florence; Hamel, Yamina; Haack, Tobias B.; Feichtinger, Rene G.; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cecile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clement; Eisermann, Monika; Boutron, Audrey; Chretien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie; Nemazanyy, Ivan; Delahodde, Agnes; Kolker, Stefan; Rodenburg, Richard J.; Korenke, G. Christoph; Meitinger, Thomas; Strom, Tim M.; Prokisch, Holger; Rotig, Agnes; Ottolenghi, Chris; Mayr, Johannes A.; de Lonlay, Pascale

Tübinger Autor(en):

Haack, Tobias

Erschienen in:

American Journal of Human Genetics (2017), Bd. 101, H. 2, S. 283-290

Verlagsangabe:

Cell Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ajhg.2017.07.001

ISSN:

1537-6605