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

Authors
  • Takamizawa, Koichi1
  • Kim, Ki-Sung1
  • Ueda, Hideaki1
  • 1 Department of Cardiology, Kanagawa Children's Medical Center, Yokohama, Japan. , (Japan)
Type
Published Article
Journal
Cardiology in the Young
Publisher
Cambridge University Press
Publication Date
Nov 25, 2021
Pages
1–3
Identifiers
DOI: 10.1017/S1047951121004674
PMID: 34819192
Source
Medline
Keywords
Language
English
License
Unknown

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.

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