A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is a primary disorder of the cardiac muscle, characterized by dilatation of the left ventricle and contractile dysfunction. About 50% of DCM cases can be attributed to monogenic causes, whereas the etiology in the remaining patients remains unexplained. We report a famil...

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Detalles Bibliográficos
Autores principales: Maver, Aleš, Žigman, Tamara, Rangrez, Ashraf Yusuf, Ćorić, Marijana, Homolak, Jan, Šarić, Dalibor, Škifić, Iva, Udovičić, Mario, Zekušić, Marija, Saleem, Umber, Laufer, Sandra D., Hansen, Arne, Frey, Norbert, Barić, Ivo, Peterlin, Borut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528970/
https://www.ncbi.nlm.nih.gov/pubmed/35840178
http://dx.doi.org/10.1101/mcs.a006221

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528970/
https://www.ncbi.nlm.nih.gov/pubmed/35840178
http://dx.doi.org/10.1101/mcs.a006221

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