Articles with "lmna r249q" as a keyword



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

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Published in 2022 at "Frontiers in Cardiovascular Medicine"

DOI: 10.3389/fcvm.2022.932956

Abstract: 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… read more here.

Keywords: r249q genetic; lmna; genetic variant; sodium ... See more keywords