Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant

Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant

Abstract DSG2, encoding desmoglein-2, is one of the causative genes of arrhythmogenic cardiomyopathy. We previously identified a homozygous DSG2 p.Arg119Ter stop-gain variant in a patient with juvenile-onset cardiomyopathy and advanced biventricular heart failure. However, the pathological significa...

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Main Authors: Takuya Sumida, Shou Ogawa, Shuichiro Higo, Yuki Kuramoto, Ryo Eto, Yoshihiko Ikeda, Congcong Sun, Junjun Li, Li Liu, Tomoka Tabata, Yoshihiro Asano, Mikio Shiba, Yasuhiro Akazawa, Daisuke Nakamura, Takafumi Oka, Tomohito Ohtani, Yasushi Sakata
Format: Article
Language:English
Published: Nature Publishing Group 2024-12-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00304-w
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