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Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy preceding skeletal muscle symptoms.

Koichi TakamizawaKi-Sung KimHideaki Ueda
Published in: Cardiology in the young (2021)
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.
Keyphrases
  • muscular dystrophy
  • skeletal muscle
  • insulin resistance
  • left ventricular
  • duchenne muscular dystrophy
  • risk factors
  • multiple sclerosis
  • type diabetes
  • physical activity