Aggresome–Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

The four-and-half LIM domain protein 1 (FHL1) is highly expressed in skeletal and cardiac muscle. Mutations of the FHL1 gene have been associated with diverse chronic myopathies including reducing body myopathy, rigid spine syndrome (RSS), and Emery–Dreifuss muscular dystrophy. We investigated a fam...

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Detalles Bibliográficos
Autores principales: Sabatelli, Patrizia, Castagnaro, Silvia, Tagliavini, Francesca, Chrisam, Martina, Sardone, Francesca, Demay, Laurence, Richard, Pascale, Santi, Spartaco, Maraldi, Nadir M., Merlini, Luciano, Sandri, Marco, Bonaldo, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137286/
https://www.ncbi.nlm.nih.gov/pubmed/25191266
http://dx.doi.org/10.3389/fnagi.2014.00215

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