An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI.
Itoh
Nobuo
N
Maeda
Masaykuki
M
Naito
Yutaka
Y
Narita
Yugo
Y
Kuzuhara
Shigeki
S
D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D020863:Central Nervous System Cysts / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D038524:Diffusion Magnetic Resonance Imaging; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
C425069:MLC1 protein, human; D008565:Membrane Proteins