Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy

We report a family with 2 neonatal deaths related to dilated cardiomyopathy (DCM) and compound heterozygous loss-of-function variants (c.1243_1244del, p.Leu415Valfs*108 and c.1537C > T, p.Arg513*) in Leiomodin 2 (LMOD2), a recently documented cause of early DCM. The phenotype in mice and humans c...

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Detalles Bibliográficos
Autores principales: Greenway, Steven C., Fruitman, Deborah, Ferrier, Raechel, Huculak, Cathleen, Marcadier, Julien, Sergi, Consolato, Bernier, Francois P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8636227/
https://www.ncbi.nlm.nih.gov/pubmed/34888509
http://dx.doi.org/10.1016/j.cjco.2021.07.017

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