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.
Talkop
Ulvi Astra
UA
Department of Pediatrics, Tartu University,6 Lunini Street, 51014, Tartu, Estonia.
Talvik
Inga
I
Sõnajalg
Margit
M
Sibul
Hiljar
H
Kolk
Anneli
A
Piirsoo
Andres
A
Warzok
Rolf
R
Wulff
Karin
K
Wehnert
Manfred S
MS
Talvik
Tiina
T
D000125:Achilles Tendon / Q000503:physiopathology; D000293:Adolescent; D009202:Cardiomyopathies / Q000209:etiology* / Q000235:genetics; D002648:Child; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D004550:Elbow / Q000503:physiopathology; D004569:Electroencephalography; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications* / Q000235:genetics*; D009687:Nuclear Proteins; D010375:Pedigree; D017384:Sequence Deletion; D013946:Thymopoietins
D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin