A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i>

A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i>

<i>POLR3B</i> encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders. Recently, the association with dominant demyelinating neuropathy, classified as Charcot–Marie–Tooth synd...

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Bibliographic Details
Main Authors: Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D’Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Brain Sciences
Subjects:
ataxia
heterozygous
leukodystrophy
neuropathy
<i>POLR3A</i>
vertical gaze palsy
Online Access:https://www.mdpi.com/2076-3425/13/11/1567

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