Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy

Neuromuscul Disord. 2002 Nov;12(9):878-81. doi: 10.1016/s0960-8966(02)00134-7.


Two brothers are reported suffering from X-linked Emery-Dreifuss muscular dystrophy caused by a 59bp deletion eliminating nucleotides 329-388 of the STA gene. Besides the typical findings for Emery-Dreifuss muscular dystrophy, both patients showed an unusual early onset of cardiac symptoms at age 6 and 9 years, respectively, coinciding with unusual high creatine kinase. A cardiological follow up showed worsening of the cardiac condition in the beginning of the second decade. The two boys described here belong to the very few Emery-Dreifuss muscular dystrophy patients with early onset of cardiac involvement and contribute to the variability of cardiac symptoms in Emery-Dreifuss muscular dystrophy.

Publication types

  • Case Reports
  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Achilles Tendon / physiopathology
  • Adolescent
  • Cardiomyopathies / etiology*
  • Cardiomyopathies / genetics
  • Child
  • Chromosomes, Human, X*
  • DNA Mutational Analysis
  • Elbow / physiopathology
  • Electroencephalography
  • Follow-Up Studies
  • Humans
  • Male
  • Membrane Proteins
  • Muscular Dystrophy, Emery-Dreifuss / complications*
  • Muscular Dystrophy, Emery-Dreifuss / genetics*
  • Nuclear Proteins
  • Pedigree
  • Sequence Deletion*
  • Thymopoietins


  • Membrane Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin