A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Alessandro GeroldiStefano TozzaChiara FiorilloMaria NolanoPaola FossaFloriana VitaleRegi DomiAndrea GaudioAlessia MammiSerena PatroneAndrea La BarberaPaola OrigoneClarissa PontiFrancesca SanguineriFederico ZaraMatteo CataldiVincenzo SalpietroConsuelo Barbara VenturiSara MassuccoAngelo SchenoneFiore ManganelliPaola MandichEmilia BelloneFabio GottaPublished in: Journal of the peripheral nervous system : JPNS (2023)
Neurophysiological and morphological findings suggest a primary axonal involvement of the largest nerve fibers in POLR3B-related neuropathies. A partial loss of function mechanism is proposed for both neuropathy and leukodystrophy phenotypes. This article is protected by copyright. All rights reserved.