Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report

Pelizaeus-Merzbacher-Like Disease 1 is a genetic disorder affecting the central nervous system with an autosomal recessive inheritance pattern. It is a rare genetic disorder that affects the central nervous system. In this report, we demonstrated the clinical and paraclinical features of an Iranian...

Full description

Bibliographic Details
Main Authors: Sepehr Javadikooshesh, Hooshang Zaimkohan, Parisa Pourghorban, Fatemeh Bahramim, Nader Ebadi
Format: Article
Language:English
Published: Shiraz University of Medical Sciences 2021-11-01
Series:Iranian Journal of Medical Sciences
Subjects:
Online Access:https://ijms.sums.ac.ir/article_47692_e9c83525db75c165654e3fe8170124f3.pdf