Article
Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy preceding skeletal muscle symptoms.
Cardiology in the young - 1 Jul 2022
Takamizawa Koichi, Kim Ki-Sung, Ueda Hideaki
Abstract excerpt
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...
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