A Novel Splice-site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Turkish Patient

Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with cerebellar ataxia and spasticity. An 8-month-old bo...

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Detalles Bibliográficos
Autores principales: Türkyılmaz, A, Ünver, O, Ekinci, G, Türkdoğan, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956632/
https://www.ncbi.nlm.nih.gov/pubmed/31942423
http://dx.doi.org/10.2478/bjmg-2019-0019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956632/
https://www.ncbi.nlm.nih.gov/pubmed/31942423
http://dx.doi.org/10.2478/bjmg-2019-0019

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