Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy | Zendy

Mark Norman | Zendy; Michael A. Simpson | Zendy; Jens Mogensen | Zendy; A.O. Shaw | Zendy; Siân Hughes | Zendy; Petros Syrris | Zendy; Srijita SenChowdhry | Zendy; Edward Rowland | Zendy; Andrew H. Crosby | Zendy; William J. McKenna | Zendy

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Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy

Author(s) -

Mark Norman,

Michael A. Simpson,

Jens Mogensen,

A.O. Shaw,

Siân Hughes,

Petros Syrris,

Srijita SenChowdhry,

Edward Rowland,

Andrew H. Crosby,

William J. McKenna

Publication year - 2005

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.104.532234

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

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities of the right ventricle (RV). Several disease loci have been identified. Mutations in desmoplakin have recently been isolated in both autosomal-dominant and autosomal-recessive forms of ARVC. Primary left ventricular (LV) variants of the disease are increasingly recognized. We report on a large family with autosomal-dominant left-sided ARVC.

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