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2 results

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

  • Koichi Takamizawa, Ki-Sung Kim, Hideaki Ueda
  • Journal:
    Cardiology in the Young / Volume 32 / Issue 7 / July 2022
    Published online by Cambridge University Press:
    25 November 2021, pp. 1175-1177
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  • 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.

  • Familial dilated cardiomyopathy with a novel LMNA mutation (p.R429C): a case report

  • Kun Li, Lanting Zhao, Ping Zhang
  • Journal:
    Cardiology in the Young / Volume 30 / Issue 10 / October 2020
    Published online by Cambridge University Press:
    11 September 2020, pp. 1544-1546
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  • LMNA mutations cause a variety of inherited diseases referred to as laminopathies which are associated with a wide spectrum of disease phenotypes, ranging from skeletal muscle disease, pre-mature ageing, metabolic disorders, and cardiac abnormalities. We present a case of a 14-year-old boy with dilated cardiomyopathy induced by the LMNA mutation (p. R429C) and described its electrocardiogram and imaging features.