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

Author:

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

Publisher

Frontiers Media SA

Subject

Immunology,Immunology and Allergy

Reference22 articles.

1. KornblumC Mitochondriale Erkrankungen. S1-Leitlinie der DGN für Diagnostik und Therapie in der Neurologie.2012

2. Mutations causing mitochondrial disease: what is new and what challenges remain?;Lightowlers;Science,2015

3. MELAS syndrome: clinical manifestations, pathogenesis, and treatment options;El-Hattab;Mol Genet Metab,2015

4. Taro matsuoka for MELAS study group in Japan. MELAS: a nationwide prospective cohort study of 96 patients in Japan;Yatsuga;Biochim Biophys Acta,2012

5. Autoimmun polyglanduläre syndrome: aspekte zu pathogenese, prognose und therapie;Brabant;Dtsch Arztebl.,2002

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