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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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Bibliografiske detaljer
Udgivet i:Cerebellum Ataxias
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Online adgang: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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