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

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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Bibliographic Details
Main Authors: Dominique Endres, Patrick Süß, Simon J. Maier, Evelyn Friedel, Kathrin Nickel, Christiane Ziegler, Bernd L. Fiebich, Franz X. Glocker, Friedrich Stock, Karl Egger, Thomas Lange, Michael Dacko, Nils Venhoff, Daniel Erny, Soroush Doostkam, Katalin Komlosi, Katharina Domschke, Ludger Tebartz van Elst
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-03-01
Series:Frontiers in Immunology
Subjects:
MELAS
mitochondrial disease
polyglandular autoimmune syndrome
ND4 gene
dysexecutive syndrome
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.00412/full

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https://www.frontiersin.org/article/10.3389/fimmu.2019.00412/full

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