Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome

Abstract Mutations in CHRNE encoding the epsilon subunit of acetylcholine receptor result in impaired neuromuscular transmission and congenital myasthenic syndrome (CMS) with variying severity of symptoms. Although the pathophysiology is well-known, blood biomarker signatures enabling a patient-stra...

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Bibliographic Details

Published in:	Acta Neuropathologica Communications
Main Authors:	Adela Della Marina, Andrie Koutsoulidou, Daniel Natera-de Benito, Lars-Oliver Tykocinski, Marios Tomazou, Kristia Georgiou, Andreas Laner, Heike Kölbel, Andres Nascimento, Carlos Ortez, Angela Abicht, Basant Kumar Thakur, Hanns Lochmüller, Leonidas A. Phylactou, Tobias Ruck, Ulrike Schara-Schmidt, Dipali Kale, Andreas Hentschel, Andreas Roos
Format:	Article
Language:	English
Published:	BMC 2025-02-01
Subjects:	CMS biomarkers CMS extracellular vesicles CMS white blood cells CMS miRNA CMS metabolites
Online Access:	https://doi.org/10.1186/s40478-025-01946-9