title: Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy.
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.
authors.affiliation: Department of Pediatrics, Tartu University,6 Lunini Street, 51014, Tartu, Estonia.
authors.forename: Ulvi Astra
authors.initials: UA
authors.lastname: Talkop
authors.forename: Inga
authors.initials: I
authors.lastname: Talvik
authors.forename: Margit
authors.initials: M
authors.lastname: Sõnajalg
authors.forename: Hiljar
authors.initials: H
authors.lastname: Sibul
authors.forename: Anneli
authors.initials: A
authors.lastname: Kolk
authors.forename: Andres
authors.initials: A
authors.lastname: Piirsoo
authors.forename: Rolf
authors.initials: R
authors.lastname: Warzok
authors.forename: Karin
authors.initials: K
authors.lastname: Wulff
authors.forename: Manfred S
authors.initials: MS
authors.lastname: Wehnert
authors.forename: Tiina
authors.initials: T
authors.lastname: Talvik
mesh_terms: 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
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin