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...

Full description

Bibliographic Details

Published in:	Balkan Journal of Medical Genetics
Main Authors:	Türkyılmaz A, Ünver O, Ekinci G, Türkdoğan D
Format:	Article
Language:	English
Published:	Sciendo 2019-12-01
Subjects:	cdna sequencing exon skipping leuko-encephalopathy mlc1 gene splice-site mutation
Online Access:	https://doi.org/10.2478/bjmg-2019-0019