Periodic Reporting for period 1 - REBOOST (Rewiring with biased signaling to override oxidative pathway defects for SEPN1-related myopathy therapy)

SEPN1-related myopathy (SEPN1-RM or SELENON-RM) is a rare, untreatable congenital muscle disease in which mutations of the SEPN1/SELENON gene impair the antioxidant and ER stress protection mechanisms and mitochondrial function. This ultimately leads to a significant loss of...