Evaluation of a child with Emery-Dreifuss muscular dystrophy phenotype

EDMD: Emery-Dreifuss muscular dystrophy; AD: autosomal dominant; AR: autosomal recessive; EMD: emerin gene; FHL1: four-and-a-half LIM domains 1 gene; RSS: rigid spine syndrome; LMNA: lamin A/C gene; SYNE1: spectrin repeat containing, nuclear envelope 1 gene; SYNE2: spectrin repeat containing, nuclear envelope 2 gene; TMEM43: transmembrane protein 43 gene; SEPN1: selenoprotein N 1 gene; NGS: next generation sequencing.