Characterization of an MLC patient carrying two MLC1 variants showing radiological improvement
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy. Approximately 75% of MLC patients have variants in MLC1, while the rest in GLIALCAM, GPRC5B and AQP4. From the GLIALCAM patients, a classical and a benign phenotype can be distinguished, in...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-09-01
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| Series: | Brain Disorders |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666459323000161 |