Fig. 2: The myopathy spectrum.

This represents a Uniform Manifold Approximation and Projection (UMAP) dimensional reduction of the integrated dataset, where muscles with similar expression patterns are closely located. A Both gender and age are evenly distributed across the spectrum. Myopathy muscles sequenced using different methods, including those from the GEO database (100% sequenced by total RNA) and Helsinki (100% sequenced by mRNA), are grouped together in the upper-right corner of the spectrum. B This spectrum order was inferred from detailed phenotypes of GTEx donors: (1) 234 very healthy donors (fast death of natural causes or sudden unexpected deaths, e.g., car accident or suicide); (2) 470 donors with general diseases (ill but death was unexpected or ventilator using cases); (3) 87 donors with wasting diseases (slow death after a long illness, e.g., cancer or chronic pulmonary disease). Muscles located from the lower-left to the upper-right represent a range from very healthy donors to donors with general diseases, to donors with wasting diseases, and finally to myopathy donors. C The myopathy spectrum progresses from Healthy→Mild disease→Moderate muscle wasting→Severe muscle disease.