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Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions

10 Apr 2024

Abstract excerpt

Myopathy refers to a large group of heterogeneous, rare muscle diseases. Bulk RNA-sequencing has been utilized for the diagnosis and research of these diseases for many years. However, the existing valuable sequencing data often lack integration and clinical interpretation. In this study, we integrated bulk RNA-sequencing data from 1221 human skeletal muscles (292 with myopathies, 929 controls) from both...

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PMID: 38600180
DOI: 10.1038/s42003-024-06143-3

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