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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Detalles Bibliográficos
Autores principales: Chen, Xi, Qu, Haibo, Yao, Qiang, Cai, Xiaotang, He, Tiantian, Zhang, Xuemei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10622957/
https://www.ncbi.nlm.nih.gov/pubmed/37928140
http://dx.doi.org/10.3389/fneur.2023.1253398

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10622957/
https://www.ncbi.nlm.nih.gov/pubmed/37928140
http://dx.doi.org/10.3389/fneur.2023.1253398

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