A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

References

van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol. 1995; 37(3): 324-334.
Search in Google Scholar Back to article
Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, et al. A unique mutational spectrum of MLC1 in Korean patients with megalencephalic leukoencephaopalopathy with subcortical cysts: p.Ala275Asp founder mutation and maternal uniparental disomy of chromosome 22. Ann Lab Med. 2017; 37(6): 516-521.
Search in Google Scholar Back to article
van der Voorn JP, Pouwels PJ, Hart AA, Serrarens J, Willemsen MA, Kremer HP, et al. Childhood white matter disorders: Quantitative MR imaging and spectroscopy. Radiology. 2006; 241(2): 510-517.
Search in Google Scholar Back to article
Sugiura C, Shiota M, Maegaki Y, Yoshida K, Koeda T, Kitahara T, et al. Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leuko-encephalopathy with subcortical cysts. Neuro-pediatrics. 2006; 37(5): 286-290.
Search in Google Scholar Back to article