SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis

OBJECTIVE: To assess the association between copy number (CN) variation in the survival motor neuron (SMN) locus and multifocal motor neuropathy (MMN), progressive muscular atrophy (PMA), and primary lateral sclerosis (PLS) susceptibility and to determine the association of SMN1 and SMN2 CN with MMN...

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Detalles Bibliográficos
Autores principales: Bos, Jeroen W., Groen, Ewout J.N., Wadman, Renske I., Curial, Chantall A.D., Molleman, Naomi N., Zegers, Marinka, van Vught, Paul W.J., Snetselaar, Reinier, Vijzelaar, Raymon, van der Pol, W. Ludo, van den Berg, Leonard H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220964/
https://www.ncbi.nlm.nih.gov/pubmed/34169148
http://dx.doi.org/10.1212/NXG.0000000000000598

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220964/
https://www.ncbi.nlm.nih.gov/pubmed/34169148
http://dx.doi.org/10.1212/NXG.0000000000000598

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