Fig. 1

Mdm and wild-type muscles clusters separate in the transcriptomics space. a Distribution of muscles across Principal Components 1 and 2. The mdm and wild-type samples form two distinct clusters along PC1, showing unique transcriptomic characteristics associated with each genotype. b Volcano plots show expression profiles of EDL, psoas, and soleus muscles. Red indicates the genes with p-adj < 0.01 and absolute fold change >  = 2 in mdm muscles compared to wild-type. Gene expression profiles of the three muscles are unique and the magnitude of gene expression changes are not identical. c UpSet plot showing muscle specific response to mdm mutation in EDL, psoas, and soleus. The number of unique and overlapping genes among the up- and downregulated genes in mdm EDL, psoas, and soleus are shown here. The two largest gene subsets are unique to psoas. The next largest gene subsets show the overlap between the up- and downregulated genes between psoas and soleus. Only 386 upregulated genes and 248 downregulated genes were common to all three muscles. Compared to other genes subsets, only very few genes are mutually affected in the two fast muscles (EDL and psoas)