Imaging Features of Skeletal Muscle and Their Correlation With Clinical Findings in Emery–Dreifuss Muscular Dystrophy Caused by <scp> <i>EMD</i> </scp> Variants

Elbow flexion strength is a potential marker of disease severity. The finding that the patient with a missense variant had a lower mMS supports previous reports that missense variants are associated with milder phenotypes. Genetic variant type should be considered in biomarker development for EDMD1.