Spinocerebellar ataxia 23
OMIM:610245Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | PDYN |
|---|---|
| Reference transcript | NM_024411.4 |
| DNA Change | c.680G>A |
| A.A. Change | p.Gly227Asp |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Jezierska J, Stevanin G, Watanabe H, Fokkens MR, Zagnoli F, Kok J, Goas JY, Bertrand P, Robin C, Brice A, Bakalkin G, Durr A, Verbeek DS.Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. J Neurol. 2013 Mar 8. [Epub ahead of print] |