Pamela Barraza-Flores

Abstract Single-cell and spatial transcriptomic technologies have revolutionized human cell and tissue research. Success of these methods critically depends on the preservation of RNA integrity, cellular viability, and structure of the explanted tissues—features that are impacted by tissue storage conditions, and pose challenges in research settings, where tissues are often collected in the operating room and transported to distant laboratories.

Abstract SELENON-Related Myopathy (SELENON-RM) is a rare congenital myopathy caused by mutations of the SELENON gene characterized by axial muscle weakness and progressive respiratory insufficiency. Muscle histopathology commonly includes multiminicores or a dystrophic pattern but is often non-specific.