Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated subjects presenting with early-onset generalized hypotonia...

Descripción completa

Detalles Bibliográficos
Autores principales: Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223029/
https://www.ncbi.nlm.nih.gov/pubmed/27989324
http://dx.doi.org/10.1016/j.ajhg.2016.11.014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223029/
https://www.ncbi.nlm.nih.gov/pubmed/27989324
http://dx.doi.org/10.1016/j.ajhg.2016.11.014

Ejemplares similares