SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis.
Jeroen W BosEwout Joan Nicolaas GroenRenske I WadmanChantall A D CurialNaomi N MollemanMarinka ZegersPaul W J van VughtReinier SnetselaarRaymon VijzelaarW Ludo van der PolLeonard H van den BergPublished in: Neurology. Genetics (2021)
SMN1 duplications are associated with PMA, but not with PLS and MMN. SMN1 duplications in PMA are balanced duplications. The results of this study highlight the primary effect of altered SMN CN on lower motor neurons.