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 been associated with mutations in RNA polymerase III enzymes (Pol III) subunits.
Campopiano, R., Ferese, R., Zampatti, S., Giardina, E., Biagioni, F., Colonnese, C., et al. (2020). A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset. BMC NEUROLOGY, 20(1), 258 [10.1186/s12883-020-01835-9].
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset
Zampatti, Stefania;Giardina, Emiliano;Centonze, Diego;Buttari, Fabio;Gambardella, Stefano
2020-06-29
Abstract
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 been associated with mutations in RNA polymerase III enzymes (Pol III) subunits.File in questo prodotto:
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