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

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 func...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359989/
https://www.ncbi.nlm.nih.gov/pubmed/33949776
http://dx.doi.org/10.1002/ajmg.a.62231

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