Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

BACKGROUND: SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in the LAMA2 gene (LAMA2-related muscular dystrophy...

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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, van Tilburg, Willem C. M., Buckens, Stan C. F. M., Dittrich, Anne T. M., Draaisma, Jos M. T., Janssen, Mirian C. H., Kamsteeg, Erik-Jan, van Kleef, Esmee S. B., Koene, Saskia, Smeitink, Jan A. M., Küsters, Benno, van Tienen, Florence H. J., Smeets, Hubert J. M., van Engelen, Baziel G. M., Erasmus, Corrie E., Voermans, Nicol C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Study Protocol
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8357962/
https://www.ncbi.nlm.nih.gov/pubmed/34384384
http://dx.doi.org/10.1186/s12883-021-02336-z

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