Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)

Background: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, o...

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Bibliographic Details
Main Authors: Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Carvajal syndrome
Desmoplakin
Genetics
Sudden cardiac death
Defibrillator
Right ventricular dysplasia
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300386

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http://www.sciencedirect.com/science/article/pii/S2214426916300386

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