A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

SLC25A42 is an inner mitochondrial membrane protein which has been shown to transport coenzyme A through a lipid bilayer in vitro. A homozygous missense variant in this gene has been recently reported in 13 subjects of Arab descent presenting with mitochondriopathy with variable clinical manifestati...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:JIMD Rep
Main Authors: Iuso, Arcangela, Alhaddad, Bader, Weigel, Corina, Kotzaeridou, Urania, Mastantuono, Elisa, Schwarzmayr, Thomas, Graf, Elisabeth, Terrile, Caterina, Prokisch, Holger, Strom, Tim M., Hoffmann, Georg F., Meitinger, Thomas, Haack, Tobias B.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2018
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323019/
https://ncbi.nlm.nih.gov/pubmed/29923093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_115
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker