Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
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 with DCM who died shortly after birth due to heart failure. Exome sequencing identified a...
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Full title
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8989920
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8989920
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-022-01043-8
