Fig. 2

The gene mutations detected in the family members. a The mutated site of the desmin (DES), c.700G>A/p.E234K. b The mutated site of the Myopalladin (MYPN), c.2966G>A/p.R989H. c The mutated site of the gene CACNA1C, c.5918G>C/p.R1973P. d The conservation of the mutated site. All 3 sites were highly conserved among different species. e The pedigree chart of the family. The symptom-free daughter showed mild myocardial hypertrophy and left ventricle outflow tract obstruction, but her ECG did not show abnormal ST segments elevations. The DES, MYPN and CACNA1C mutations were detected in the daughter but not in the older sister, whose UCG did not show any abnormalities