A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review

BackgroundLeukodystrophies are hereditary white matter diseases characterized by genetic polymorphisms and considerable phenotypic variability. They can be classified into myelin and non-myelin malformations. These diseases are rare, affecting 1 out of 250,000–500,000 individuals and can manifest at...

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Bibliografiske detaljer
Main Authors: Lei Sun, Weihong Lin, Hongmei Meng, Wuqiong Zhang, Shuai Hou
Format: Article
Sprog:English
Udgivet: Frontiers Media S.A. 2023-10-01
Serier:Frontiers in Neurology
Fag:
POLR3A
hypomyelinating leukodystrophy-7
4H syndrome
diagnosis
demyelinating diseases
Online adgang:https://www.frontiersin.org/articles/10.3389/fneur.2023.1269237/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1269237/full

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