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Article

Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.

American journal of medical genetics. Part A - 1 Aug 2021

Bruyndonckx Luc, Vogelzang Judith L, Bugiani Marianna, Straver Bart, Kuipers Irene M, Onland Wes, Nannenberg Eline A, Clur Sally-Ann, van der Crabben Saskia N

Abstract excerpt

Pathogenic heterozygous NEXN variants are associated with progressive dilated cardiomyopathy (DCM) usually presenting around 50 years of age. We describe an asymptomatic boy who had transient DCM at 3 months of age, that resolved by 4 months. Presently, at 11 years of age, he has normal cardiac function with signs of mild DCM on cardiac MRI. Genetic diagnostics revealed a paternally derived, heterozygous...

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Share to Cardiomyopathy, Dilated
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33949776
DOI: 10.1002/ajmg.a.62231
PMCID: PMC8359989

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Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.PMID 33949776Read ↗

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