Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
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DOI: 10.1038/s41431-022-01043-8
Abstract: Dilated cardiomyopathy (DCM) is characterized by cardiac enlargement and impaired ventricular contractility leading to heart failure. A single report identified variants in leiomodin-2 (LMOD2) as a cause of neonatally-lethal DCM. Here, we describe two siblings… read more here.
Keywords: donor splice; lmod2; splice site; dilated cardiomyopathy ... See more keywords