Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the <i>CCDC88C</i> Gene
Spinocerebellar ataxia (SCA) 40 is an extremely rare subtype of the phenotypically and genetically diverse autosomal dominant ataxias caused by mutations of the <i>CCDC88C</i> gene. Most reported cases of SCA40 are characterized by late-onset cerebellar ataxia and variable extrapyramidal...
Main Authors: | Fanni Annamária Boros, László Szpisjak, Renáta Bozó, Evelyn Kelemen, Dénes Zádori, András Salamon, Judit Danis, Tibor Kalmár, Zoltán Maróti, Mária Judit Molnár, Péter Klivényi, Márta Széll, Éva Ádám |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-01-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/24/3/2617 |
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