Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phen...

Source: BMC Neurology - January 13, 2020 Category: Neurology Authors: Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez and Sebastien Lebon Tags: Case report Source Type: research