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We identified the first and homozygous mutation (p.Gly114Ala) in the Mediator subunit 20 gene (MED20) in siblings presenting with infantile-onset spasticity and childhood-onset dystonia, progressive basal ganglia degeneration, and brain atrophy
MED20 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003
TRF-proximal protein homolog
, Trf (TATA binding protein-related factor)-proximal homolog
, mediator complex subunit 20mediator complex subunit 20mediator complex subunit 20Trf (TATA binding protein-related factor)-proximal homolog
, mediator of RNA polymerase II transcription subunit 20
, Trf (TATA binding protein-related factor)-proximal protein homolog
, ubiquitin specific protease 49