Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report

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...

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Bibliographic Details
Main Authors: Siti Aminah, Fathul Huda, Uni Gamayani, Iin Pusparini, Mochammad Faisal Afif Mochyadin, Yunia Sribudiani, Norlinah Mohamed Ibrahim, Tri Hanggono Achmad
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:Heliyon
Subjects:
Autosomal dominant
Familial ataxia
Indonesia
Polyglutamine
Spinocerebellar ataxia
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844021016224

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http://www.sciencedirect.com/science/article/pii/S2405844021016224

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