A NOVEL SPLICE-SITE MUTATION ON THE MLC1 GENE LEADING TO EXON 9 SKIPPING AND MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN A TURKISH PATIENT
Türkyılmaz A1,*, Ünver O2, Ekinci G3, Türkdoğan D2
*Corresponding Author: Ayberk Türkyılmaz, M.D., Department of Medical Genetics, Marmara University School of Medicine, Fevzi Çakmak Quarter Muhsin Yazıcıoğlu Street No. 10 Üst Kaynarca, Pendik, İstanbul, Turkey. Tel: +90-505-812-0334. Fax: +90-216-625-4545. E-mail: ayberkturkyilmaz@gmail.com
page: 89

REFERENCES

1. 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. 2. 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. 3. 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. 4. 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. Neuropediatrics. 2006; 37(5): 286-290.



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