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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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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 |
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