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
10.3389/fimmu.2019.00412
Front Immunol
2019 Mar 21;10:412.
melas nd4 gene dysexecutive syndrome mitochondrial disease polyglandular autoimmune syndrome
CC BY
https://pubmed.ncbi.nlm.nih.gov/30949164/
MELAS Syndrome / complications MELAS Syndrome / genetics NADH Dehydrogenase / genetics Point Mutation Polyendocrinopathies, Autoimmune / complications
MELAS Syndrome / complications MELAS Syndrome / genetics NADH Dehydrogenase / genetics Point Mutation Polyendocrinopathies, Autoimmune / complications Case Reports Research Support, Non-U.S. Gov't Addison Disease / complications Adult Cognitive Dysfunction / complications DNA, Mitochondrial / genetics Fatigue / complications Female Gastritis / complications Hashimoto Disease / complications Headache / complications Humans Seizures / complications DNA, Mitochondrial NADH dehydrogenase subunit 4 NADH Dehydrogenase
PMC6437310
30949164
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
2019