Case Report: A novel desmoplakin mutation in a taiwanese woman with familial dilated cardiomyopathy that necessitated heart transplantation

Around one-third of patients diagnosed with idiopathic dilated cardiomyopathy (DCM) turn out to be familial cases, in only a few of which the identification of a pathogenic/likely pathogenic variant could be achieved. Cardiomyopathy caused by desmoplakin gene mutations represents a distinct form wit...

Descripción completa

Detalles Bibliográficos
Autores principales: Chang, Yi-Han, Lin, Pei, Lin, Jia-Ling, Huang, Hsin-Yu, Hsu, Chao-Kai, Hsu, Chih-Hsin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9538354/
https://www.ncbi.nlm.nih.gov/pubmed/36212137
http://dx.doi.org/10.3389/fgene.2022.954931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9538354/
https://www.ncbi.nlm.nih.gov/pubmed/36212137
http://dx.doi.org/10.3389/fgene.2022.954931

Ejemplares similares