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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Neurol Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer 2021
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi