The patient had no pathogenic mutations in the genes associated with congenital myopathy, including RYR1, SEPN1, ACTA1, AGRN, BIN1, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DNM2, DOK2, GFPT1, IGHMBP2, KBTBD13, KLHL40, LAMB2, MTM1, MUSK, MYH7, RAPSN, SLC5A7, SMN1, TNNT1, TPM2, TPM3 and TTN, in hybridization capture-based next-generation sequencing. The gene discussed is SELENON; the disease is congenital myopathy with cores.