Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report

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 involvem...

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Detalles Bibliográficos
Autores principales: Nikkhah, Ali, Rezakhani, Sepideh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664542/
https://www.ncbi.nlm.nih.gov/pubmed/36397839
http://dx.doi.org/10.1002/ccr3.6556
Descripción
Sumario: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.

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