Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report

p62/Sequestosome-1 (SQSTM1) is a stress-inducible scaffold protein involved in multiple cellular processes, including apoptosis, inflammation, cell survival, and selective autophagy. SQSTM1 mutations are associated with a spectrum of multisystem proteinopathy, including Paget disease of the bone, am...

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Detalles Bibliográficos
Autores principales: Wu, Rui, Shao, Sai, Yin, Ling, Deng, Jianwen, Guo, Shougang, Lu, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043206/
https://www.ncbi.nlm.nih.gov/pubmed/36998782
http://dx.doi.org/10.3389/fneur.2023.1043136

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043206/
https://www.ncbi.nlm.nih.gov/pubmed/36998782
http://dx.doi.org/10.3389/fneur.2023.1043136

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