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Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

OBJECTIVE: Mutations in the prion‐like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ANXA11 have been reported in patients with amyotrophic lateral sclerosis and mult...

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Detalles Bibliográficos
Autores principales: Johari, Mridul, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sophia, Kanavaki, Aikaterini, Chrysanthou‐Piterou, Margarita, Rusanen, Salla, Savarese, Marco, Hackman, Peter, Udd, Bjarne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539373/
https://www.ncbi.nlm.nih.gov/pubmed/36134701
http://dx.doi.org/10.1002/acn3.51665