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Updated: Sep 9, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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ハイパルトロフィック心筋病の遺伝的構造の再定義:中間効果変異の役割

Soledad García Hernandez1, Luis de la Higuera Romero2, Adrián Fernández3

  • 1Health in Code S.L., A Coruña, Spain; Universidade da Coruña, Spain; Inherited Cardiac Diseases Unit, San Cecilio Hospital, Granada, Spain.

Circulation
|August 29, 2025
PubMed
まとめ

中間効果の変異体 (IEVs) は,多動性心筋病 (HCM) 症例の6. 1%で発見され,遺伝的負担に大きく寄与し,疾患の重症度に影響します. IEVの評価は,総合的なHCM遺伝子検査と患者のアウトカムを理解するために不可欠です.

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