Article
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Cells - 20 Mar 2020
Mosbah Héléna, Vatier Camille, Boccara Franck, Jéru Isabelle, Lascols Olivier, Vantyghem Marie-Christine, Fève Bruno, Donadille Bruno, Sarrazin Elisabeth, Benabbou Sophie, Inamo Jocelyn, Ederhy Stéphane, Cohen Ariel, Neraud Barbara, Richard Pascale, Picard Fabien, Christin-Maitre Sophie, Redheuil Alban, Wahbi Karim, Vigouroux Corinne
Abstract excerpt
Variants in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle laminopathies, and arterial wall dysfunction and/or valvulopathy in lipodystrophic and/or progeroid laminopathies. We report unexpected cardiovascular phenotypes in...
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