LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes by performing a targeted genetic analysis of...

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Detalles Bibliográficos
Autores principales: Cesar, Sergi, Coll, Monica, Fiol, Victoria, Fernandez-Falgueras, Anna, Cruzalegui, Jose, Iglesias, Anna, Moll, Isaac, Perez-Serra, Alexandra, Martínez-Barrios, Estefanía, Ferrer-Costa, Carles, del Olmo, Bernat, Puigmulè, Marta, Alcalde, Mireia, Lopez, Laura, Pico, Ferran, Berrueco, Rubén, Brugada, Josep, Zschaeck, Irene, Natera-de Benito, Daniel, Carrera-García, Laura, Exposito-Escudero, Jessica, Ortez, Carlos, Nascimento, Andrés, Brugada, Ramon, Sarquella-Brugada, Georgia, Campuzano, Oscar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10080029/
https://www.ncbi.nlm.nih.gov/pubmed/37035729
http://dx.doi.org/10.3389/fgene.2023.1135438

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10080029/
https://www.ncbi.nlm.nih.gov/pubmed/37035729
http://dx.doi.org/10.3389/fgene.2023.1135438

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