Figure 5.

CMP + progressive neuromuscular disease + delayed motor milestone. Abbreviations: AF, atrial fibrillation; AR, autosomal recessive; AVB, atrioventricular block; CHDs, congenital heart defects; CMP, cardiomyopathy; CSF, cerebrospinal fluid; DCM, dilated cardiomyopathy; CPK; creatine phosphokinase; EO, external ophthalmoplegia; ESHF, end-stage heart failure; GHD, growth hormone deficiency; HCM; hypertrophic cardiomyopathy; ID, intellectual disability; LQT, long QT; NSVT, non-sustained ventricular tachycardia; PCD, progressive conduction defects; RP, retinitis pigmentosa; S, syndrome; SCD, sudden cardiac death; SVT, sustained ventricular tachycardia; VF, ventricular fibrillation; WPW, Wolff Parkinson White.