SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
The SYNE1 (spectrin repeat-containing nuclear envelope protein 1) gene encodes a family of spectrin structural proteins that are associated with anchoring the plasma membrane to the actin cytoskeleton. SYNE1-related disease is most commonly reported in autosomal recessive spinocerebellar ataxia 8,...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2018-08-01
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| Series: | Clinics and Practice |
| Subjects: | |
| Online Access: | https://www.clinicsandpractice.org/index.php/cp/article/view/1071 |