Two Different MLC1 Variants Compounded with a Common Variant S93L in Japanese Patients of Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic leukoencephalopathy with subcortical cysts (MLC; MIM#604004) is a rare congenital disorder of the cerebral white matter. Most MLC patients have MLC1 mutations which are inherited in an autosomal recessive manner. Since there is no established biomarker for MLC, genetic testing is nec...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Society of Tokyo Women's Medical University
2020-09-01
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| Series: | Tokyo Women's Medical University Journal |
| Subjects: | |
| Online Access: | https://www.jstage.jst.go.jp/article/twmuj/4/0/4_2020007/_pdf/-char/en |