New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2

Background: Mitochondrial diseases are caused by dysfunctions in mitochondrial metabolic pathways. MELAS syndrome is one of the most frequent mitochondrial disorders; it is characterized by encephalopathy, myopathy, lactic acidosis, and stroke-like episodes. Typically, it is associated with a point...

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Detalles Bibliográficos
Autores principales: Endres, Dominique, Süß, Patrick, Maier, Simon J., Friedel, Evelyn, Nickel, Kathrin, Ziegler, Christiane, Fiebich, Bernd L., Glocker, Franz X., Stock, Friedrich, Egger, Karl, Lange, Thomas, Dacko, Michael, Venhoff, Nils, Erny, Daniel, Doostkam, Soroush, Komlosi, Katalin, Domschke, Katharina, Tebartz van Elst, Ludger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437310/
https://www.ncbi.nlm.nih.gov/pubmed/30949164
http://dx.doi.org/10.3389/fimmu.2019.00412

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