Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts

Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited cerebral white matter disorder in children. Pathogenic variations in the causative gene MLC1 are found in approximately 76% of patients and are inherited in an autosomal recessive manner. In this study, we identifie...

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Bibliographic Details
Main Authors: Xi Chen, Haibo Qu, Qiang Yao, Xiaotang Cai, Tiantian He, Xuemei Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Neurology
Subjects:
MLC
MLC1
leukodystrophy
splice mutation
clinical phenotype
prenatal diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1253398/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1253398/full

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