A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes
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DOI: 10.1111/jcmm.17532
Abstract: 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… read more here.
Keywords: novel mutation; mutation human; gene; human emd ... See more keywords