Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

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 d...

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Detalles Bibliográficos
Autores principales: Yuen, Michaela, Worgan, Lisa, Iwanski, Jessika, Pappas, Christopher T., Joshi, Himanshu, Churko, Jared M., Arbuckle, Susan, Kirk, Edwin P., Zhu, Ying, Roscioli, Tony, Gregorio, Carol C., Cooper, Sandra T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989920/
https://www.ncbi.nlm.nih.gov/pubmed/35082396
http://dx.doi.org/10.1038/s41431-022-01043-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989920/
https://www.ncbi.nlm.nih.gov/pubmed/35082396
http://dx.doi.org/10.1038/s41431-022-01043-8

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