Figure 3.
Genetic analysis revealed three novel heterozygous variations of CACNA1C and TTN gene in the family. (A) Missense variant c.1786G>A in CACNA1C gene. (C) Missense variant c.5344G>A in CACNA1C gene. (E) Missense variant c.49415G>A in TTN gene. The arrows indicate the comparison between the mutant site and normal wild-type. WT corresponds to (B), (D), and (F), respectively. CACNA1C, calcium voltage-gated channel subunit alpha1 C; TTN, titin; WT, wild-type.