This PRKAG2 cardiomyopathy cohort demonstrated a clinical profile dominated by cardiac manifestations, including biventricular hypertrophy (19/22 patients with left and right ventricular hypertrophy), without evidence of skeletal myopathy as seen in patients with the PRKAG2 syndrome with the Asn488Ile mutation27. Here, PRKAG2 is linked to skeletal muscle disorder.