期刊
JOURNAL OF CHILD NEUROLOGY
卷 20, 期 3, 页码 230-234出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/088307380502000301
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Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. We report two full siblings with neuroimaging studies and clinical courses typical for megalencephalic leukoencephalopathy with subcortical cysts, in whom a pair of novel mutations in the MLC1 gene was identified. We review the current knowledge of this disorder in relation to the patients reported.
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