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Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia

Spinocerebellar ataxias (SCA) are highly heterogenous group of neurodegenerative diseases causing progressive cerebellar dysfunction. We report the first description of relative frequencies of the common SCA mutations and of phenotypic characteristics of SCA3 patients among Malaysians. Pooled data f...

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Detalles Bibliográficos
Autores principales: Mohamed Ibrahim, Norlinah, Lau, Yue Hui, Ariffin, Noorasyikin, Md Desa, Siti Hajar, Azizan, Elena, Chin, Long Kha, Md Rani, Shahrul Azmin, Yakob, Yusnita, Datuk Puvanarajah, Santhi, van de Warrenburg, Bart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398320/
https://www.ncbi.nlm.nih.gov/pubmed/32922823
http://dx.doi.org/10.1186/s40673-020-00120-2