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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Udgivet i:Neurol Genet
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8220964/
https://ncbi.nlm.nih.gov/pubmed/34169148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000598
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