A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia

INTRODUCTION: Spinocerebellar ataxia (SCA) is an autosomal dominant genetic disease characterized by cerebellar neurological deficits. Specifically, its primary clinical manifestation is ataxia accompanied by peripheral nerve damage. A total of 48 causative genes of SCA have been identified. This st...

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Detalles Bibliográficos
Autores principales: Chai, Senmao, Liu, Deyang, Liu, Yajing, Sang, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659002/
https://www.ncbi.nlm.nih.gov/pubmed/37899026
http://dx.doi.org/10.1159/000534692

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659002/
https://www.ncbi.nlm.nih.gov/pubmed/37899026
http://dx.doi.org/10.1159/000534692

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