Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature
...Published in BMC Neurology
BackgroundA 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, cognitive, and behavioural regression in early to middle childh...
