Target region capture sequencing showed a heterozygous missense mutation in exon 46 of the SYNE1 gene (NM_033071, c.6910A > G, p.G2304R) of the proband, which lead to a glycine-to-arginine substitution (p.Gly2304Arg) that has been associated with the EDMD-like phenotype. The gene discussed is SYNE1; the disease is Emery-Dreifuss muscular dystrophy.