Novel mutation for SCA40 with initial presentation as retinitis pigmentosa

Acta Neurol Belg. 2023 Oct;123(5):2027-2029. doi: 10.1007/s13760-022-02094-w. Epub 2022 Sep 14.

Authors

Romana Perković¹, Lovro Hrvoić², Ivan Mandić³, Anamarija Soldo Koruga³, Silva Butković Soldo³

Affiliations

¹ Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia. romana.per@gmail.com.
² University of Zagreb School of Medicine, Zagreb, Croatia.
³ Department of Neurology, University Hospital Center Osijek, Osijek, Croatia.

PMID: 36103085
DOI: 10.1007/s13760-022-02094-w

No abstract available

Keywords: CCDC88C; Retinitis pigmentosa; SCA40; Spinocerebellar ataxia.

Publication types

Letter

MeSH terms

Humans
Imidazoles
Mutation / genetics
Pedigree
Pyrazines
Retinitis Pigmentosa* / diagnosis
Retinitis Pigmentosa* / genetics

Substances

6-bromo-8-methylaminoimidazo(1,2-a)pyrazine-2-carbonitrile
Imidazoles
Pyrazines