A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes

Emerin is an inner nuclear envelope protein encoded by the EMD gene, mutations in which cause Emery–Dreifuss muscular dystrophy type 1 (EDMD1). Cardiac involvement has become a major threat to patients with EDMD1; however, the cardiovascular phenotype spectrums of emerinopathy and the mechanisms by...

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Detalles Bibliográficos
Autores principales: Du, Zunhui, Zhu, Tinfang, Lin, Menglu, Bao, Yangyang, Qiao, Jing, Lv, Gang, Xie, Yinyin, Li, Qihen, Quan, Jinwei, Xu, Cathy, Xie, Yuan, Wang, Lingjie, Yang, Wenjie, Wang, Shengyue, Wu, Liqun, Yin, Tong, Xie, Yucai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9549503/
https://www.ncbi.nlm.nih.gov/pubmed/36106556
http://dx.doi.org/10.1111/jcmm.17532

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