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Updated: Jul 22, 2025

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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MYH7 p. ((Arg1712Gln) 是一种致病的创始变体,导致过度缩性心肌病变,总体相对延迟发病

Luisa Marsili1,2, Freyja H M van Lint2,3, Francesco Russo4

  • 1Clinique de génétique Guy Fontaine, CHU Lille, 59000, Lille, France.

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|July 24, 2023
PubMed
概括

MYH7 p.(Arg1712Gln) 变异是一种病原性创始突变,与多变性心肌病 (HCM) 相关. 这种基因变异显示出疾病透的延迟,特别是在女性中,需要长期的临床监测.

关键词:
心肌病是一种心肌病.创始人突变 创始人突变过度缩性心肌病变性是一种心脏病变.在MYH7中,MYH7是MYH7.肌肉素重链 7 个

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