LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study

BACKGROUND AND OBJECTIVES: LAMA2-related muscular dystrophy (LAMA2-MD) is a rare neuromuscular disease characterized by proximal and axial muscle weakness, rigidity of the spine, scoliosis, and respiratory impairment. No curative treatment options exist, yet promising preclinical studies are ongoing...

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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: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10356133/
https://www.ncbi.nlm.nih.gov/pubmed/37476021
http://dx.doi.org/10.1212/NXG.0000000000200089

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