Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma-Reference-Cited by-同舟云学术

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Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma

Published:2011-07-26 Issue:12 Volume:100 Page:1087-1093
ISSN:1861-0684
Container-title:Clinical Research in Cardiology
language:en
Short-container-title:Clin Res Cardiol

Author:

Williams Tatjana,Machann Wolfram,Kühler Leif,Hamm Henning,Müller-Höcker Josef,Zimmer Michael,Ertl Georg,Ritter Oliver,Beer Meinrad,Schönberger Jost

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Link

http://www.springerlink.com/index/pdf/10.1007/s00392-011-0345-9

Reference18 articles.

1. Alcalai R, Metzger S, Rosenheck S et al (2003) A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 42:319–327

2. Ashrafian H, Watkins H (2007) Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype. J Am Coll Cardiol 49:1251–1264

3. Azaouagh A, Churzidse S, Konorza T et al (2011) Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update. Clin Res Cardiol 100:383–394

4. Bauce B, Basso C, Rampazzo A et al (2005) Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 26:1666–1675

5. Bolling MC, Veenstra MJ, Jonkman MF et al (2010) Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. Br J Dermatol 162:1388–1394

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