A TMEM175 Mutation Disrupts the Lysosomal-Mitochondrial Axis Causing Short QT Syndrome and Sudden Cardiac Death
Francisco Miguel Cruz, Juan Manuel Ruiz-Robles, Isabel martinez Martinez-Carrascoso…·José Jalife
This paper identifies a TMEM175 mutation causing short QT syndrome and sudden cardiac death by disrupting lysosomal-mitochondrial interactions and impairing mitochondrial function.