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.

SUBMITTER: Nikkhah A 

PROVIDER: S-EPMC9664542 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature