TY  - GEN
AU  - Gomez-Dominguez, Deborah
AU  - Epifano, Carolina
AU  - Hernández Martínez, Iván
AU  - Vilaplana-Marti, Borja
AU  - Martin, Alberto
AU  - Amarilla-Quintana, Sandra
AU  - Cesar, Sergi
AU  - de Molina-Iracheta, Antonio
AU  - Sena-Esteves, Miguel
AU  - Sarquella-Brugada, Georgia
AU  - Perez de Castro, Ignacio
PY  - 2025
DO  - 10.1016/j.omta.2025.201653
SN  - 3117-387X
UR  - https://hdl.handle.net/20.500.12105/27142
AB  - LMNA-associated congenital muscular dystrophy is a currently incurable rare genetic disorder characterized by early-onset muscle weakness, dilated cardiomyopathy and respiratory failure, resulting from mutations in the LMNA gene. In this study, we...
LA  - eng
PB  - Elsevier
KW  - LMNA
KW  - L-CMD
KW  - Laminopathies
KW  - CRISPR/Cas9
KW  - Gene therapy
KW  - Rare disease
TI  - CRISPR-mediated targeting of the LMNA c.745C>T pathogenic mutation enhances survival and cardiac function in congenital muscular dystrophy.
TY  - research article
ER  -