Developmental Regression and Movement Disorder as a Phenotypic Variant
of POLR3A Mutation - Case Report
Abstract
POLR3A is a main subunit encoding RNA polymerase III which is involved
in transcription of many RNA structures. Here we report a new
presentation of c.1771-6C>G intronic variant presenting as
developmental regression, seizure and dystonia in a 6-year-old boy
associated with striatum involvement in the brain MRI.
