Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome

Abstract Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common autosomal dominant muscle disorders, yet no cure or amelioration exists. The clinical presentation is diverse, making it difficult to identify the actual driving pathomechanism among many downstream events. To unravel t...

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Bibliographic Details
Main Authors: Teresa Schätzl, Vanessa Todorow, Lars Kaiser, Helga Weinschrott, Benedikt Schoser, Hans-Peter Deigner, Peter Meinke, Matthias Kohl
Format: Article
Language:English
Published: Nature Portfolio 2024-05-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-024-06325-z