Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
出版年份 2020 全文链接
标题
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
作者
关键词
-
出版物
Journal of Clinical Medicine
Volume 9, Issue 4, Pages 937
出版商
MDPI AG
发表日期
2020-04-03
DOI
10.3390/jcm9040937
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Non‐compaction cardiomyopathy is caused by a novel in‐frame desmin ( DES ) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect
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