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

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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Autores principales: Steven C. Greenway, MSc, MD, FRCPC, Deborah Fruitman, MD, FRCPC, Raechel Ferrier, MSc, MA, CCGC, Cathleen Huculak, MSc, CCGC, Julien Marcadier, MD, FRCPC, Consolato Sergi, MD, PhD, FRCPC, Francois P. Bernier, MD, FRCPC
Formato: article
Lenguaje:EN
Publicado: Elsevier 2021
Materias:
Diseases of the circulatory (Cardiovascular) system
RC666-701
Acceso en línea:https://doaj.org/article/60b3eec0c6164d55b62c618570873234
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