A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

Abstract Background Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group of clinically overlapping hypomyelinating leukodystrophies (HL) has be...

Full description

Bibliographic Details
Main Authors: Rosa Campopiano, Rosangela Ferese, Stefania Zampatti, Emiliano Giardina, Francesca Biagioni, Claudio Colonnese, Diego Centonze, Marianna Storto, Fabio Buttari, Edoardo Fraviga, Vania Broccoli, Mirco Fanelli, Francesco Fornai, Stefano Gambardella
Format: Article
Language:English
Published: BMC 2020-06-01
Series:BMC Neurology
Subjects:
POLR3A mutations
Hypomyelinating leukodystrophies
Age of onset
Brain
Online Access:http://link.springer.com/article/10.1186/s12883-020-01835-9

Internet

http://link.springer.com/article/10.1186/s12883-020-01835-9

Similar Items