CLCN2-related leukoencephalopathy: a case report and review of the literature
Abstract Background Loss-of-function mutations in the CLCN2 gene were recently discovered to be a cause of a type of leukodystrophy named CLCN2-related leukoencephalopathy (CC2L), which is characterized by intramyelinic edema. Herein, we report a novel mutation in CLCN2 in an individual with leukody...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-07-01
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| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12883-019-1390-7 |