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.

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

Giardina, Emiliano;Fanelli, Mirco;Gambardella, Stefano
2020

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11576/2678785
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