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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Main Authors:	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
Format:	article
Language:	EN
Published:	Elsevier 2021
Subjects:	Diseases of the circulatory (Cardiovascular) system RC666-701
Online Access:	https://doaj.org/article/60b3eec0c6164d55b62c618570873234
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https://doaj.org/article/60b3eec0c6164d55b62c618570873234

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

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