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LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient

Pathogenic variants in the LMNA gene are known to cause laminopathies, a broad range of disorders with different clinical phenotypes. LMNA genetic variants lead to tissue-specific pathologies affecting various tissues and organs. Common manifestations of laminopathies include cardiovascular system a...

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Detalles Bibliográficos
Autores principales: Perepelina, Kseniya, Zaytseva, Anastasia, Khudiakov, Aleksandr, Neganova, Irina, Vasichkina, Elena, Malashicheva, Anna, Kostareva, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9355377/
https://www.ncbi.nlm.nih.gov/pubmed/35935653
http://dx.doi.org/10.3389/fcvm.2022.932956