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...

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Published in: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
Language:Inglês
Published: Springer Berlin Heidelberg 2018
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Online Access: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
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