Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives. Genetic testing identified a homozygous rare variant, c.1592T > G (p.Phe531...

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Detalles Bibliográficos
Autores principales: Murakami, Haruka, Tanimoto, Yoko, Tanimoto, Kojiro, Inoue, Satomi, Ishikawa, Taisuke, Makita, Naomasa, Yamazawa, Kazuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360431/
https://www.ncbi.nlm.nih.gov/pubmed/35941102
http://dx.doi.org/10.1038/s41439-022-00206-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360431/
https://www.ncbi.nlm.nih.gov/pubmed/35941102
http://dx.doi.org/10.1038/s41439-022-00206-9

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