Mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes (GPR126, KLHL40, KLHL41 and SPEG). The gene discussed is MYH3; the disease is neuromuscular disease.