“…Therefore, the identification of genetic factors that predispose these patients to SCD is important because this enables genetic testing that may contribute to diagnosis and risk stratification 28. Currently, most studies have focused on genes that encode ion channels ( SCN5A, HCN4, KCNJ2 ),29,30 structural proteins ( LMNA, DES, JUP ), cardiac transcription factors ( NKX2-5, TBX5 ), gap junctions ( Cx40 ) and energy metabolism regulators ( PRKAG2 ),28,31,32–34 but few studies have selected EMD as a positional candidate gene for sequencing. Our findings provide a rationale for EMD mutation testing in cases of X-linked inherited CCD or SCD, even if pathognomonic neuromuscular features may not be obvious.…”