title: Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain.
authors: Department of Neurology, National Hospital Organization, Kumamoto Saisyunsou Hospital, 2659 Suya, Koshi City, Kumamoto 861-1196, Japan; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan.
authors: Teruaki
authors: T
authors: Masuda
authors: Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan. Electronic address: mitt@rb3.so-net.ne.jp.
authors: Mitsuharu
authors: M
authors: Ueda
authors: Department of Neurology, National Hospital Organization, Kumamoto Saisyunsou Hospital, 2659 Suya, Koshi City, Kumamoto 861-1196, Japan.
authors: Hidetsugu
authors: H
authors: Ueyama
authors: Tokyo Women's Medical University Institute for Integrated Medical Sciences, 8-1 Kawata-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.
authors: Shino
authors: S
authors: Shimada
authors: Department of Neurology, National Hospital Organization, Kumamoto Saisyunsou Hospital, 2659 Suya, Koshi City, Kumamoto 861-1196, Japan.
authors: Masatoshi
authors: M
authors: Ishizaki
authors: Department of Neurology, National Hospital Organization, Kumamoto Saisyunsou Hospital, 2659 Suya, Koshi City, Kumamoto 861-1196, Japan.
authors: Shigehiro
authors: S
authors: Imamura
authors: Tokyo Women's Medical University Institute for Integrated Medical Sciences, 8-1 Kawata-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.
authors: Toshiyuki
authors: T
authors: Yamamoto
authors: Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan.
authors: Yukio
authors: Y
authors: Ando
mesh_terms: D000328:Adult; D003560:Cysts / Q000235:genetics*; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D055815:Young Adult
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins
keywords: Astrocytes; MLC1 mutation; MRI; Megalencephalic leukoencephalopathy; Subcortical cysts; Van der Knaap disease