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Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization
Proteins of the nuclear envelope (NE) are associated with a range of inherited disorders, most commonly involving muscular dystrophy and cardiomyopathy, as exemplified by Emery-Dreifuss muscular dystrophy (EDMD). EDMD is both genetically and phenotypically variable, and some evidence of modifier gen...
Autores principales: | Meinke, Peter, Mattioli, Elisabetta, Haque, Farhana, Antoku, Susumu, Columbaro, Marta, Straatman, Kees R., Worman, Howard J., Gundersen, Gregg G., Lattanzi, Giovanna, Wehnert, Manfred, Shackleton, Sue |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161305/ https://www.ncbi.nlm.nih.gov/pubmed/25210889 http://dx.doi.org/10.1371/journal.pgen.1004605 |
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