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

Published online by Cambridge University Press:  25 November 2021

Koichi Takamizawa Open the ORCID record for Koichi Takamizawa [Opens in a new window] ,
Ki-Sung Kim  and
Hideaki Ueda
Koichi Takamizawa*
Affiliation:
Department of Cardiology, Kanagawa Children’s Medical Center, Yokohama, Japan
Ki-Sung Kim
Affiliation:
Department of Cardiology, Kanagawa Children’s Medical Center, Yokohama, Japan
Hideaki Ueda
Affiliation:
Department of Cardiology, Kanagawa Children’s Medical Center, Yokohama, Japan
*
Author for correspondence: Koichi Takamizawa, Kanagawa Children’s Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama 232-8555, Japan. Tel: +81-45-711-2351. E-mail: k.takami46@gmail.com
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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.

Keywords

Emery-Dreifuss muscular dystrophyLMNADilated cardiomyopathy
Type
Brief Report
Information
Cardiology in the Young , Volume 32 , Issue 7 , July 2022 , pp. 1175 - 1177
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Copyright
© The Author(s), 2021. Published by Cambridge University Press

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