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Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy preceding skeletal muscle symptoms
Published online by Cambridge University Press: 25 November 2021
Abstract
Emery-Dreifuss muscular dystrophy is a slowly progressive skeletal muscle and joint disorder associated with cardiac complications. Dilated cardiomyopathy was the initial manifestation of Emery-Dreifuss muscular dystrophy in an 8-year-old girl. Despite normal muscle and myocardial biopsies, genetic testing revealed LMNA mutations. As Emery-Dreifuss muscular dystrophy is associated with minimal skeletal muscle weakness, cardiac complications can facilitate its diagnosis.
- Type
- Brief Report
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- © The Author(s), 2021. Published by Cambridge University Press