Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies

A single missense variant of the TMPO/LAP2α gene, encoding LAP2 proteins, has been associated with cardiomyopathy in two brothers. To further evaluate its role in cardiac muscle, we included TMPO in our cardiomyopathy diagnostic gene panel. A screening of ~5000 patients revealed three novel rare TMP...

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Detalles Bibliográficos
Autores principales: Vadrot, Nathalie, Ader, Flavie, Moulin, Maryline, Merlant, Marie, Chapon, Françoise, Gandjbakhch, Estelle, Labombarda, Fabien, Maragnes, Pascale, Réant, Patricia, Rooryck, Caroline, Probst, Vincent, Donal, Erwan, Richard, Pascale, Ferreiro, Ana, Buendia, Brigitte
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9857342/
https://www.ncbi.nlm.nih.gov/pubmed/36672271
http://dx.doi.org/10.3390/cells12020337

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9857342/
https://www.ncbi.nlm.nih.gov/pubmed/36672271
http://dx.doi.org/10.3390/cells12020337

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