Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy |
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Authors: | Talkop Ulvi Astra Talvik Inga Sõnajalg Margit Sibul Hiljar Kolk Anneli Piirsoo Andres Warzok Rolf Wulff Karin Wehnert Manfred S Talvik Tiina |
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Affiliation: | Department of Pediatrics, Tartu University,6 Lunini Street, 51014, Tartu, Estonia. |
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Abstract: | 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. |
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