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

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

Abstract Background 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). Phenotype is consistent among these probands with progressive motor,...

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Bibliographic Details
Main Authors: Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez, Sebastien Lebon
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Neurology
Subjects:
Neurodegeneration
UBTF
EEG
Online Access:https://doi.org/10.1186/s12883-019-1586-x

Internet

https://doi.org/10.1186/s12883-019-1586-x

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