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Updated: Mar 10, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Published on: August 8, 2022

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变体p. ((Arg424Gly) 改变非肌肉肌IIA收缩,导致非典型的MYH9相关疾病

Lena Pollinger1, Johannes N Greve2, Melanie Grosch1

  • 1Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Kidney international reports
|March 9, 2026
PubMed
概括

在MYH9的致病变体导致自体主导的MYH9相关疾病. 一种新的功能增益变体,p.(Arg424Gly),增强了运动活动,导致脏疾病和肝酶升高.

关键词:
与MYH9相关的疾病自体主导的自体主导.这是一种质球体.脏疾病 脏疾病蛋白质尿症是一种蛋白质尿症.血小板细胞减少症 (Thrombocytopenia) 是一种

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