A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus

A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to laminopathies such as lipodystrophies, premature aging syndromes (progeria) and muscular dystrophies. Here, we identified a novel heterozygous LMNA p.R38...

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Detalles Bibliográficos
Autores principales: Barateau, Alice, Vadrot, Nathalie, Vicart, Patrick, Ferreiro, Ana, Mayer, Michèle, Héron, Delphine, Vigouroux, Corinne, Buendia, Brigitte
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5268432/
https://www.ncbi.nlm.nih.gov/pubmed/28125586
http://dx.doi.org/10.1371/journal.pone.0169189

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5268432/
https://www.ncbi.nlm.nih.gov/pubmed/28125586
http://dx.doi.org/10.1371/journal.pone.0169189

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