Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy | Zendy

Kalliopi Pilichou | Zendy; Andrea Nava | Zendy; Cristina Basso | Zendy; Giorgia Beffagna | Zendy; Barbara Bauce | Zendy; Alessandra Lorenzon | Zendy; Gianfranco Frigo | Zendy; Andrea Vettori | Zendy; Marialuisa Valente | Zendy; Jeffrey A. Towbin | Zendy; Gaetano Thiene | Zendy; Gian Antonio Danieli | Zendy; Alessandra Rampazzo | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

Author(s) -

Kalliopi Pilichou,

Andrea Nava,

Cristina Basso,

Giorgia Beffagna,

Barbara Bauce,

Alessandra Lorenzon,

Gianfranco Frigo,

Andrea Vettori,

Marialuisa Valente,

Jeffrey A. Towbin,

Gaetano Thiene,

Gian Antonio Danieli,

Alessandra Rampazzo

Publication year - 2006

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.105.583674

Subject(s) - medicine , cardiomyopathy , cardiology , gene , mutation , genetics , heart failure , biology

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive myocardial atrophy with fibrofatty replacement. The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC is due to desmosomal defects. Therefore, desmoglein-2 (DSG2), the only desmoglein isoform expressed in cardiac myocytes, was screened in subjects with ARVC.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research