Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population

被引：0

作者：

Yis, Uluc ^{[1
]}

Scheper, Gert C. ^{[5
]}

Uran, Nedret ^{[2
]}

Unalp, Aycan ^{[2
]}

Cakmakci, Handan ^{[3
]}

Hiz-Kurul, Semra ^{[4
]}

Dirik, Eray ^{[4
]}

van der Knaap, Marjo S. ^{[5
]}

机构：

[1] Gaziantep Childrens Hosp, Div Child Neurol, Gaziantep, Netherlands

[2] Dokuz Eylul Univ, Fac Med, Behcet Uz Res & Training Hosp, Izmir, Turkey

[3] Dokuz Eylul Univ, Fac Med, Dept Radiol, Izmir, Turkey

[4] Dokuz Eylul Univ, Fac Med, Dept Pediat, Izmir, Turkey

[5] Vrije Univ Amsterdam, Med Ctr, Div Child Neurol, Dept Pediat, Amsterdam, Netherlands

来源：

TURKISH JOURNAL OF PEDIATRICS | 2010年 / 52卷 / 02期

关键词：

megalencephalic leukoencephalopathy; subcortical cysts; MLC1; gene; Turkish population; DYSTROPHIN-GLYCOPROTEIN COMPLEX; MILD CLINICAL-COURSE; DER-KNAAP-DISEASE; PROTEIN; SCHIZOPHRENIA; ASSOCIATION; CHILDREN; MRI;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Yis U, Scheper GC, Uran N, Unalp A, Cakmakci H, Hiz-Kurul S, Dirik E, van der Knaap MS. Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population. Turk J Pediatr 2010; 52: 179-183. Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy that is characterized by macrocephaly and a slowly progressive clinical course. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of the disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also review identified mutations in the Turkish population.

引用

页码：179 / 183

页数：5

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