SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness

BACKGROUND: SELENON(SEPN1)-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease characterized by proximal and axial muscle weakness, spinal rigidity, scoliosis and respiratory impairment. No curative treatment options exist, but promising preclinical studies are ongoing. Currentl...

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Detalles Bibliográficos
Autores principales: Bouman, Karlijn, Groothuis, Jan T., Doorduin, Jonne, van Alfen, Nens, Udink ten Cate, Floris E.A., van den Heuvel, Frederik M.A., Nijveldt, Robin, Kamsteeg, Erik-Jan, Dittrich, Anne T.M., Draaisma, Jos M.T., Janssen, Mirian C.H., van Engelen, Baziel G.M., Erasmus, Corrie E., Voermans, Nicol C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657684/
https://www.ncbi.nlm.nih.gov/pubmed/37807786
http://dx.doi.org/10.3233/JND-221673

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