Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients.

Authors :: Bhuiyan, Zahurul A.
Jongbloed, Jan D. H.
Van der Smagt, Jasper
Lombardi, Paola M.
Wiesfeld, Ans C. P.
Nelen, Marcel
Schouten, Meyke
Jongbloed, Roselie
Cox, Moniek G. P. J.
Van Wolferen, Marleen
Rodriguez, Luz M.
Van Gelder, Isabelle C.
Bikker, Hennie
Suurmeijer, Albert J. H.
van den Berg, Maarten P.
Mannens, Marcel M. A. M.
Hauer, Richard N. W.
Wilde, Arthur A. M.
van Tintelen, J. Peter
Source :: Circulation: Cardiovascular Genetics; Oct2009, Vol. 2 Issue 5, p418-427, 10p, 1 Color Photograph, 2 Diagrams, 3 Charts, 1 Graph
Publication Year :: 2009
Abstract: The article discusses a study on Desmoglein-2 (DSG2) and Desmocollin-2 (DSC2) mutations in arrythmogenic right ventricular dysplasia/cardiomypathy (ARVD/C) patients in the Netherlands. ARVD/C is a disease characterized by progressive fibrofatty replacement of the right ventricular (RV) myocardium. The Task Force Criteria (TFC) was used to analyze the genes of 57 patients. Results show that DSG2 and DSC2 are less prevalent than PKP2 mutations.

Subjects :: DYSPLASIA
CELL transformation
CELLULAR pathology
FIBROCYSTIC breast disease
BRONCHOPULMONARY dysplasia
CARDIOMYOPATHIES

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