A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture

•X-linked EDMD may occur with spontaneous chordae tendinae rupture.•Lower facial and intrinsic hand muscles may be involved early in EDMD.•EDMD patient was clinically misdiagnosed as spinal muscular atrophy type 3.•A never reported genomic deletion resulting in a frameshift mutation in the EMD gene....

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