A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

doi:10.1111/jns.12602

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Article

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Journal of the peripheral nervous system : JPNS - 1 Dec 2023

Geroldi Alessandro, Tozza Stefano, Fiorillo Chiara, Nolano Maria, Fossa Paola, Vitale Floriana, Domi Regi, Gaudio Andrea, Mammi Alessia, Patrone Serena, Barbera Andrea La, Origone Paola, Ponti Clarissa, Sanguineri Francesca, Zara Federico, Cataldi Matteo, Salpietro Vincenzo, Venturi Consuelo Barbara, Massucco Sara, Schenone Angelo, Manganelli Fiore, Mandich Paola, Bellone Emilia, Gotta Fabio

Abstract excerpt

BACKGROUND AND AIMS: POLR3B gene encodes a subunit of RNA polymerase III (Pol III). Biallelic mutations in POLR3B are associated with leukodystrophies, but recently de novo heterozygous mutations have been described in early onset peripheral demyelinating neuropathies with or without central involvement. Here, we report the first Italian case carrying a de novo variant in POLR3B with a pure neuropathy phenotype...

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PMID: 37897416
DOI: 10.1111/jns.12602

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