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

25 May 2024

Abstract excerpt

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 this complexity, we performed a meta-analysis of 13 original omics datasets (in total 171 FSHD and 129 control samples). Our...

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PMID: 38796645
DOI: 10.1038/s42003-024-06325-z

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