Biomarkers in 5q-associated spinal muscular atrophy—a narrative review

5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by mutations in the SMN1 gene, resulting in a loss of functional SMN protein and consecutive degeneration of motor neurons in the ventral horn. The disease is clinically characterized by proximal paralysis and secondary ske...

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Detalles Bibliográficos
Autores principales: Lapp, H. S., Freigang, M., Hagenacker, T., Weiler, M., Wurster, C. D., Günther, René
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421827/
https://www.ncbi.nlm.nih.gov/pubmed/37289324
http://dx.doi.org/10.1007/s00415-023-11787-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421827/
https://www.ncbi.nlm.nih.gov/pubmed/37289324
http://dx.doi.org/10.1007/s00415-023-11787-y

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