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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Dettagli Bibliografici
Pubblicato in:Cerebellum Ataxias
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
Soggetti:
Letter to the Editor
Accesso online: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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