Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain.

Teruaki Masuda,Mitsuharu Ueda,Hidetsugu Ueyama,Shino Shimada,Masatoshi Ishizaki,Shigehiro Imamura,Toshiyuki Yamamoto,Yukio Ando

Journal of the neurological sciences（2015）

引用 5|浏览7

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摘要

•Two sisters with p.Ser93Leu/Ala275Asp MLC1 mutations had dysarthria, spasticity, and ataxia.•Brain MRI showed diffuse supratentorial white matter abnormalities and swelling.•No subcortical cyst was detected in the brain of one patient with the MLC1 mutation.

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