Intrafamilial phenotypic variation in spinocerebellar ataxia type 23

BACKGROUND: Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) in several ataxia cohorts screened to date. CASE PRESENTATIONS: We found five ca...

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Detalles Bibliográficos
Autores principales: Satoh, Shunichi, Kondo, Yasufumi, Ohara, Shinji, Yamaguchi, Tomomi, Nakamura, Katsuya, Yoshida, Kunihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310450/
https://www.ncbi.nlm.nih.gov/pubmed/32587707
http://dx.doi.org/10.1186/s40673-020-00117-x

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