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A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

✍ Scribed by Harumi Saijo; Harumi Nakayama; Takanori Ezoe; Katsuhito Araki; Sui Sone; Hiroshi Hamaguchi; Hisaharu Suzuki; Naohide Shiroma; Naomi Kanazawa; Seiichi Tsujino; Yoshito Hirayama; Masataka Arima

Book ID: 114248961
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 308 KB
Volume: 25
Category: Article
ISSN: 0387-7604
DOI: 10.1016/s0387-7604(03)00006-8

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## Communicated by Christopher Mathew Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive cerebral white matter disorder in children. This disease is histopathologically characterized by myelin splitting and intramyelinic vacuole formation. MLC is caused by m