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Updated: Jul 25, 2025

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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低频母乳新型MYH7马赛克基因突变在复发的胎儿发作严重的左心室非紧缩:一个病例报告

Hiroshi Kawamura1, Masamichi Ikawa2, Keiichi Hirono3

  • 1Department of Obstetrics and Gynecology, University of Fukui, Fukui, Japan.

Frontiers in pediatrics
|June 26, 2023
PubMed
概括

母体低频体质马赛克的肌重链7 (MYH7) 突变导致严重的胎儿发病的左心室非紧缩 (LVNC). 在基因查中,下一代测序 (NGS) 对于区分马赛克突变与新突变至关重要.

关键词:
案例报告案例报告左心室非紧缩的情况马赛克主义突变突变肌酸氨酸重链 7 个这是下一代测序.

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