Identification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach.

Four skeletal muscle tissue-specific genes were identified, including MYH1, TNNT3, MYLPF, and ATP2A1, as the potential biomarkers for diagnosing and treating RYR1 mutation-associated myopathies, which provided insights into the transcriptome-level development mechanism. The transcription factor MYF6 may be a vital upstream regulator of the above biomarkers.