Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene

Spinocerebellar ataxia (SCA) 40 is an extremely rare subtype of the phenotypically and genetically diverse autosomal dominant ataxias caused by mutations of the CCDC88C gene. Most reported cases of SCA40 are characterized by late-onset cerebellar ataxia and variable extrapyramidal features; however,...

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Detalles Bibliográficos
Autores principales: Boros, Fanni Annamária, Szpisjak, László, Bozó, Renáta, Kelemen, Evelyn, Zádori, Dénes, Salamon, András, Danis, Judit, Kalmár, Tibor, Maróti, Zoltán, Molnár, Mária Judit, Klivényi, Péter, Széll, Márta, Ádám, Éva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916980/
https://www.ncbi.nlm.nih.gov/pubmed/36768938
http://dx.doi.org/10.3390/ijms24032617

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