Fig. 4: Featured genes and qPCR validation. | Communications Biology

Fig. 4: Featured genes and qPCR validation.

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

Fig. 4

A The top five up-regulated genes in general myopathy and six myopathies with more than 25 muscles are shown. These are compared sequentially with the genuinely healthy control group (n = 234). B Since both the GEO and Helsinki controls, which were used in previous myopathy studies, were located in the “Wasting” state of the myopathy spectrum, we chose to use genuinely healthy muscles from the GTEx as unprecedented controls. This provided an alternative perspective on myopathy and informed the creation of figure (A). C Featured genes in general myopathy (MGST1, AOX1, FASN, PRKCD), titinopathy (CYP4B1), and IBM (CD163) were validated in Helsinki myopathy and control muscles (randomly selected). The results were compared using the Mann−Whitney test.

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