Phospholamban p.arg14del mutation in a Spanish family with arrhythmogenic cardiomyopathy: Evidence for a European founder mutation;Mutación p.Arg14del en fosfolambán en una familia española con miocardiopatía arritmogénica: evidencia de una mutación europea fundadora

Revista Espanola de Cardiologia

Volumn 68, Issue 4, 2015, Pages 346-349

  López Ayala, José María ^a   Boven, Ludolf ^b   Van Den Wijngaard, Arthur ^b   Peñafiel Verdú, Pablo ^c   Van Tintelen, Johan Peter ^b,d   Gimeno, Juan Ramón ^c  

^a HOSPITAL GENERAL UNIVERSITARIO REINA SOFÍA   (Spain)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOLAMBAN; CALCIUM BINDING PROTEIN; DNA;

ARRHYTHMOGENESIS; CARDIOMYOPATHY; FAMILY; LETTER; PROTEIN POLYMORPHISM; SPAIN; ADULT; CASE REPORT; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; EUROPE; FEMALE; GENETICS; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PEDIGREE;

ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CALCIUM-BINDING PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; EUROPE; FEMALE; HUMANS; MUTATION; PEDIGREE;

EID: 84925403119     PISSN: 03008932     EISSN: 15792242     Source Type: Journal    
DOI: 10.1016/j.recesp.2014.11.017     Document Type: Letter

References (5)

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2. P.A. van der Zwaag, I.A. van Rijsingen, A. Asimaki, J.D. Jongbloed, D.J. van Veldhuisen, and A.C. Wiesfeld Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy Eur J Heart Fail. 14 2012 1199 1207
3. P.A. van der Zwaag, I.A. van Rijsingen, R. de Ruiter, E.A. Nannenberg, J.A. Groeneweg, and J.G. Post Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy Neth Heart J. 21 2013 286 293
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5. I.A. van Rijsingen, P.A. van der Zwaag, J.A. Groeneweg, E.A. Nannenberg, J.D. Jongbloed, and A.H. Zwinderman Outcome in Phospholamban r14del carriers: results of a large Multicentre cohort study Circ Cardiovasc Genet. 7 2014 455 465