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Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with progressive course, and no causal therapy. Diagnostics are still challenging, due to facility and protocols, and so as in Indonesia. As a national referral center, Dr. Hasan Sadikin Central General Hospital has received a...
Autores principales: | Aminah, Siti, Huda, Fathul, Gamayani, Uni, Pusparini, Iin, Mochyadin, Mochammad Faisal Afif, Sribudiani, Yunia, Ibrahim, Norlinah Mohamed, Achmad, Tri Hanggono |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8319015/ https://www.ncbi.nlm.nih.gov/pubmed/34345727 http://dx.doi.org/10.1016/j.heliyon.2021.e07519 |
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