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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. Talkop, U.A., Talvik, I., Sõnajalg, M., Sibul, H., Kolk, A., Piirsoo, A., Warzok, R., Wulff, K., Wehnert, M.S., Talvik, T. Neuromuscul. Disord. (2002) [Pubmed]
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