Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion
K Sonoda, S Ohno, S Otuki, K Kato, N Yagihara… - Europace, 2017 - academic.oup.com
Aims Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused
by desmosome gene mutations. The genetic culprit, however, remains elusive in∼ 50% of …
by desmosome gene mutations. The genetic culprit, however, remains elusive in∼ 50% of …
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy
IEA Li Mura, B Bauce, A Nava, M Fanciulli… - European Journal of …, 2013 - nature.com
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary heart muscle disease
characterized by progressive myocardial loss, with fibro-fatty replacement, and high …
characterized by progressive myocardial loss, with fibro-fatty replacement, and high …
Prevalence and electronic health record-based phenotype of loss-of-function genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with
variants in desmosome genes. Secondary findings of pathogenic/likely pathogenic variants …
variants in desmosome genes. Secondary findings of pathogenic/likely pathogenic variants …
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia
J Fedida, V Fressart, P Charron, E Surget, T Hery… - PloS one, 2017 - journals.plos.org
Background Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an
inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the …
inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the …
Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy
X Zhou, M Chen, H Song, B Wang, H Chen… - European Journal of …, 2015 - Elsevier
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiomyopathy that primarily
involves the right ventricle. Mutations in desmosomal genes have been associated with …
involves the right ventricle. Mutations in desmosomal genes have been associated with …
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy
M Alcalde, O Campuzano, P Berne, P García-Pavía… - PLoS …, 2014 - journals.plos.org
Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiac disease
characterized by the presence of fibrofatty replacement of the right ventricular myocardium …
characterized by the presence of fibrofatty replacement of the right ventricular myocardium …
Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy
AD Den Haan, BY Tan, MN Zikusoka… - Circulation …, 2009 - Am Heart Assoc
Background—Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an
inherited disorder typically caused by mutations in components of the cardiac desmosome …
inherited disorder typically caused by mutations in components of the cardiac desmosome …
Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy
EK Biernacka, K Borowiec, M Franaszczyk… - Journal of Applied …, 2021 - Springer
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in
genes encoding desmosomal proteins. Variants in plakophilin-2 gene (PKP2) are the most …
genes encoding desmosomal proteins. Variants in plakophilin-2 gene (PKP2) are the most …
Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients
T Nakajima, Y Kaneko, T Irie, R Takahashi… - Circulation …, 2012 - jstage.jst.go.jp
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary
disorder mostly caused by desmosome gene mutations. Recent comprehensive …
disorder mostly caused by desmosome gene mutations. Recent comprehensive …
Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy
JD Roberts, JC Herkert, J Rutberg, SM Nikkel… - Clinical …, 2013 - Wiley Online Library
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease
that predominantly affects the right ventricle and is associated with ventricular arrhythmias …
that predominantly affects the right ventricle and is associated with ventricular arrhythmias …
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