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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Vydáno v:Cerebellum Ataxias
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Letter to the Editor
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7398320/
https://ncbi.nlm.nih.gov/pubmed/32922823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-020-00120-2
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