Novel Mutation of Plakophilin-2 Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by dilatation and akinesis of the right ventricle, and causes life-threatening ventricular arrhythmia. Mutations of plakophilin-2 (PKP2) have recently been identified as one causative abnormality in ARVC. A case of ARV...

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Veröffentlicht in:	Circulation Journal 2006, Vol.70(7), pp.933-935
Hauptverfasser:	Nagaoka, Iori, Matsui, Keiji, Ueyama, Takeshi, Kanemoto, Masashi, Wu, Jie, Shimizu, Akihiko, Matsuzaki, Masunori, Horie, Minoru
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia - diagnostic imaging Arrhythmogenic Right Ventricular Dysplasia - genetics Codon, Terminator - genetics Desmosome DNA Mutational Analysis Exons - genetics Frameshift Mutation - genetics Genetic analysis Humans Male Mutagenesis, Insertional Plakophilin-2 Plakophilins - genetics Protein Biosynthesis - genetics Radiography
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