POLR3A-related hypomyelinating leukodystrophy: case report and literature review
Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by a lack of brain myelin deposition. One of the most common autosomal recessive HL is HL type 7 caused by mutations in the POLR3A gene. We reported the first clinical case of a Ru...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2021-12-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/468 |
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