New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy
Keywords: EDMD; Emery-Dreifuss Muscular Dystrophy; CCD; cardiac conduction defect; VUCS; variant of unknown clinical significance; CK; creatine phosphokinase; AVB; atrioventricular block; PM; pacemaker; Lamin; Lamin A/C-dependent limb-girdle muscular dystrophy type