- Case Report
SYNE1-related Autosomal Recessive Cerebellar Ataxia, Congenital Cerebellar Hypoplasia, and Cognitive Impairment
- Lauren Swan,
- John Cardinal and
- David Coman
The spectrin repeat-containing nuclear envelope protein 1 (SYNE1) 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...

