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Updated: Feb 17, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

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ハイパートロフィック心筋症:病原性遺伝子と遺伝子型-フェノタイプ関連に関する包括的な洞察

Luwen Hao1, Xin Chen1, Bo Qin2,3

  • 1Department of Radiology, Taikang Tongji (Wuhan) Hospital, Wuhan, China.

Frontiers in cell and developmental biology
|February 16, 2026
PubMed
まとめ

ハイパートロフィック心筋病変 (HCM) は,サルコメリック遺伝子変異と関連した遺伝性心疾患です. 遺伝子検査は,診断,パーソナライズされたケア,およびHCM患者における疾患の変動性を理解するために不可欠です.

キーワード:
MYBPC3 についてMYH7は,MYH7をモチーフにしています.ゲノタイプフェノタイプ相関性ハイパートロフィック心筋病変症サルコメリック遺伝子は,サルコメリック遺伝子である.

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